MCID: ANG001
MIFTS: 62

Angelman Syndrome

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Angelman Syndrome

MalaCards integrated aliases for Angelman Syndrome:

Name: Angelman Syndrome 54 12 72 23 50 24 25 51 56 71 29 13 52 42 14 69
As 50 25 71
Happy Puppet Syndrome 12 71
Puppetlike Syndrome 12

Characteristics:

Orphanet epidemiological data:

56
angelman syndrome
Inheritance: Not applicable; Prevalence: 1-9/100000 (Worldwide),1-9/100000 (Europe); Age of onset: Infancy; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
isolated cases

Miscellaneous:
onset between 6 and 12 months of age
increased sensitivity to heat
incidence of 1 in 10,000 to 1 in 20,000
70% due to de novo maternal deletion of 15q11.2-q13
2% due to paternal uniparental disomy of 15q11.2-q13
2-3% due to imprinting defects
25% due to mutations in ube3a


HPO:

32
angelman syndrome:
Inheritance autosomal dominant inheritance sporadic


GeneReviews:

23
Penetrance Inherited ube3a pathogenic variants, ic deletions, very small 15q11.2-q13 deletions that include ube3a [kuroda et al 2014] and certain chromosome translocations follow an imprinting (or inheritance) pattern in which an individual who inherits a paternally transmitted pathogenic variant is asymptomatic (see figure 3)...

Classifications:

Orphanet: 56  
Rare neurological diseases


Summaries for Angelman Syndrome

OMIM : 54
Angelman syndrome is a neurodevelopmental disorder characterized by mental retardation, movement or balance disorder, typical abnormal behaviors, and severe limitations in speech and language. Most cases are caused by absence of a maternal contribution to the imprinted region on chromosome 15q11-q13. Prader-Willi syndrome (PWS; 176270) is a clinically distinct disorder resulting from paternal deletion of the same 15q11-q13 region. In addition, the chromosome 15q11-q13 duplication syndrome (608636) shows overlapping clinical features. Clayton-Smith and Pembrey (1992) provided a review of Angelman syndrome. Cassidy and Schwartz (1998) reviewed the molecular and clinical aspects of both Prader-Willi syndrome and Angelman syndrome. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome region. Van Buggenhout and Fryns (2009) provided a review of Angelman syndrome and discussed genetic counseling of the disorder, which can show a recurrence risk of up to 50%, depending on the underlying genetic mechanism. (105830)

MalaCards based summary : Angelman Syndrome, also known as as, is related to angelman syndrome due to paternal uniparental disomy of chromosome 15 and smoking as a quantitative trait locus 2, and has symptoms including macroglossia, ataxia and strabismus. An important gene associated with Angelman Syndrome is UBE3A (Ubiquitin Protein Ligase E3A), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. The drugs Carbidopa and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include tongue, brain and testes, and related phenotype is nervous system.

Genetics Home Reference : 25 Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. Characteristic features of this condition include delayed development, intellectual disability, severe speech impairment, and problems with movement and balance (ataxia). Most affected children also have recurrent seizures (epilepsy) and a small head size (microcephaly). Delayed development becomes noticeable by the age of 6 to 12 months, and other common signs and symptoms usually appear in early childhood.

NIH Rare Diseases : 50 angelman syndrome is a genetic disorder that primarily affects the nervous system. characteristic features of this condition include developmental delay, intellectual disability, severe speech impairment, problems with movement and balance (ataxia), epilepsy, and a small head size. individuals with angelman syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements. many of the characteristic features of angelman syndrome result from the loss of function of a gene called ube3a. most cases of angelman syndrome are not inherited, although in rare cases a genetic change responsible for angelman syndrome can be inherited from a parent. treatment is aimed at addressing each individual's symptoms and may include antiepileptics for seizures; physical, occupational, and speech therapy; and special education services.  last updated: 12/31/2015

NINDS : 51 Angelman syndrome is a genetic disorder that causes developmental delay and neurological problems. The physician Harry Angelman first delineated the syndrome in 1965, when he described several children in his practice as having "flat heads, jerky movements, protruding tongues, and bouts of laughter." Infants with Angelman syndrome appear normal at birth, but often have feeding problems in the first months of life and exhibit noticeable developmental delays by 6 to 12 months. Seizures often begin between 2 and 3 years of age. Speech impairment is pronounced, with little to no use of words. Individuals with this syndrome often display hyperactivity, small head size, sleep disorders, and movement and balance disorders that can cause severe functional deficits. Angelman syndrome results from absence of a functional copy of the UBE3A gene inherited from the mother.

UniProtKB/Swiss-Prot : 71 Angelman syndrome: A neurodevelopmental disorder characterized by severe motor and intellectual retardation, ataxia, frequent jerky limb movements and flapping of the arms and hands, hypotonia, seizures, absence of speech, frequent smiling and episodes of paroxysmal laughter, open- mouthed expression revealing the tongue.

Wikipedia : 72 Angelman syndrome (AS) is a genetic disorder that mainly affects the nervous system. Symptoms include a... more...

GeneReviews: NBK1144

Related Diseases for Angelman Syndrome

Diseases in the Angelman Syndrome family:

Cdkl5-Related Angelman-Like Syndrome Mecp2-Related Angelman-Like Syndrome
Angelman Syndrome Due to a Point Mutation Angelman Syndrome Due to Imprinting Defect in 15q11-Q13
Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15 Angelman Syndrome Due to Maternal 15q11q13 Deletion

Diseases related to Angelman Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 84, show less)
id Related Disease Score Top Affiliating Genes
1 angelman syndrome due to paternal uniparental disomy of chromosome 15 11.9
2 smoking as a quantitative trait locus 2 11.8
3 smoking as a quantitative trait locus 1 11.8
4 angelman syndrome due to maternal 15q11q13 deletion 11.8
5 angelman syndrome due to a point mutation 11.7
6 angelman syndrome due to imprinting defect in 15q11-q13 11.7
7 osteochondrosis 11.3
8 prader-willi syndrome 11.3
9 antisynthetase syndrome 11.2
10 spondyloarthropathy 1 11.2
11 hepatocellular carcinoma 11.1
12 aortic valve disease 2 11.1
13 lip cancer 11.1
14 mental retardation, x-linked syndromic, christianson type 11.0
15 mbd5 haploinsufficiency 10.9
16 ehlers-danlos syndrome, hypermobility type 10.9 ANCR UBE3A
17 hypotonia-speech impairment-severe cognitive delay syndrome 10.8 ATP10A SNRPN UBE3A
18 breast cancer 10.8
19 lung cancer susceptibility 2 10.7
20 acute gonococcal salpingitis 10.7
21 mucopolysaccharidosis is 10.7
22 bronchitis 10.7
23 asperger syndrome 10.7
24 prostate cancer 10.7
25 lymphoma 10.7
26 cln14 disease 10.7 MBD4 MECP2 UBE3A
27 urethral stricture 10.6 GABRA5 GABRB3 NIPA2
28 epilepsy 10.3
29 early onset absence epilepsy 10.3 GABRA5 GABRB3
30 spinocerebellar degeneration 10.3 CDKL5 MECP2 UBE3A
31 panhypopituitarism, x-linked 10.3 CDKL5 SLC9A6
32 atypical autism 10.2 CDKL5 GABRB3 MECP2 UBE3A
33 akinetic mutism 10.2 CDKL5 MECP2
34 neuronitis 10.1
35 korsakoff's amnesic syndrome 10.1 MAGEL2 MECP2 UBE3A
36 corneal dystrophy, fuchs endothelial, 3 10.1 CDKL5 SLC9A6
37 encephalopathy, neonatal severe 10.1 CDKL5 MBD4 MECP2 UBE3A
38 ataxia 10.0
39 microcephaly 9.9
40 albinism 9.9
41 down syndrome 9.8
42 intellectual disability 9.8
43 sleep disorder 9.8
44 myoclonus 9.8
45 oculocutaneous albinism 9.8
46 isovaleric acidemia 9.6
47 pervasive developmental disorder 9.6
48 tyrosinemia 9.6
49 tremor 9.6
50 autism spectrum disorder 9.6
51 cleft lip 9.6
52 muscular dystrophy 9.6
53 scoliosis 9.6
54 spastic diplegia 9.6
55 fragile x syndrome 9.6
56 chromosome 15q deletion 9.6
57 rett syndrome 9.6
58 hypothyroidism 9.6
59 precocious puberty 9.6
60 obesity 9.6
61 becker muscular dystrophy 9.6
62 status epilepticus 9.6
63 gurrieri syndrome 9.6
64 primary microcephaly 9.6
65 alzheimer disease 9.6
66 hypomelanosis of ito 9.6
67 cerebritis 9.6
68 hepatitis 9.6
69 encephalopathy 9.6
70 celiac disease 9.6
71 hypertonia 9.6
72 thyroiditis 9.6
73 hypotonia 9.6
74 phenylketonuria 9.6
75 lennox-gastaut syndrome 9.6
76 spasticity 9.6
77 autoimmune enteropathy type 2 9.6 MAGEL2 NDN SNRPN
78 familial long qt syndrome 9.6 MAGEL2 NDN SNRPN
79 glycogen storage disease due to glucose-6-phosphatase deficiency 9.6 MAGEL2 NDN SNRPN
80 antenatal multiminicore disease with arthrogryposis multiplex congenita 9.6 MAGEL2 NDN SNRPN
81 dysbaric osteonecrosis 9.2 GABRB3 MAGEL2 NDN SNRPN SNURF UBE3A
82 autoimmune-related retinopathy and optic neuropathy 9.0 CDKL5 GABRA5 GABRB3 MBD4 MECP2 NDN
83 sexual disorder 8.9 ATP10A GABRA5 GABRB3 MAGEL2 MECP2 NDN
84 roifman-chitayat syndrome 6.6 ANCR ATP10A CDKL5 GABRA5 GABRB3 HUWE1

Graphical network of the top 20 diseases related to Angelman Syndrome:



Diseases related to Angelman Syndrome

Symptoms & Phenotypes for Angelman Syndrome

Symptoms via clinical synopsis from OMIM:

54

Skeletal- Spine:
scoliosis

Abdomen- Gastroin testinal:
constipation
feeding difficulties in neonatal period
excessive chewing/mouthing behaviors
abnormal food-related behaviors

Head And Neck- Mouth:
macrostomia
protruding tongue
excessive drooling

Growth- Weight:
obesity (older children)

Head And Neck- Eyes:
strabismus, most frequently exotropia
ocular hypopigmentation
refractive errors (astigmatism, hyperopia, myopia)

Neurologic- Behavioral Psychiatric Manifestations:
paroxysmal laughter
easily excitable
attraction to/fascination with water, crinkly items (paper, plastic)

Neurologic- Central Nervous System:
hypotonia
absent speech
hyperreflexia
developmental delay
seizures
more
Head And Neck- Head:
brachycephaly
microcephaly, postnatal
flat occiput
occipital groove

Head And Neck- Teeth:
widely spaced teeth

Head And Neck- Face:
prognathia

Skin Nails & Hair- Skin:
hypopigmentation (seen only in deletion cases)


Clinical features from OMIM:

105830

Human phenotypes related to Angelman Syndrome:

56 32 (showing 47, show less)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macroglossia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000158
2 ataxia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001251
3 strabismus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000486
4 wide mouth 56 32 frequent (33%) Frequent (79-30%) HP:0000154
5 intellectual disability, severe 56 32 hallmark (90%) Very frequent (99-80%) HP:0010864
6 absent speech 56 32 hallmark (90%) Very frequent (99-80%) HP:0001344
7 hyperreflexia 56 32 frequent (33%) Frequent (79-30%) HP:0001347
8 seizures 56 32 hallmark (90%) Very frequent (99-80%) HP:0001250
9 microcephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000252
10 inguinal hernia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000023
11 cerebral cortical atrophy 56 32 hallmark (90%) Very frequent (99-80%) HP:0002120
12 brachycephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000248
13 widely spaced teeth 56 32 frequent (33%) Frequent (79-30%) HP:0000687
14 muscular hypotonia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001252
15 blue irides 56 32 hallmark (90%) Very frequent (99-80%) HP:0000635
16 eeg abnormality 56 32 hallmark (90%) Very frequent (99-80%) HP:0002353
17 mandibular prognathia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000303
18 behavioral abnormality 56 32 hallmark (90%) Very frequent (99-80%) HP:0000708
19 intellectual disability, progressive 56 32 hallmark (90%) Very frequent (99-80%) HP:0006887
20 hypoplasia of the maxilla 56 32 frequent (33%) Frequent (79-30%) HP:0000327
21 scoliosis 32 HP:0002650
22 nystagmus 32 HP:0000639
23 myopia 32 HP:0000545
24 global developmental delay 32 HP:0001263
25 intellectual disability 32 HP:0001249
26 hyperactivity 32 HP:0000752
27 truncal ataxia 32 HP:0002078
28 motor delay 32 HP:0001270
29 constipation 32 HP:0002019
30 sleep-wake cycle disturbance 32 HP:0006979
31 broad-based gait 32 hallmark (90%) HP:0002136
32 postnatal microcephaly 32 HP:0005484
33 obesity 32 HP:0001513
34 feeding difficulties in infancy 32 HP:0008872
35 protruding tongue 32 HP:0010808
36 drooling 32 HP:0002307
37 exotropia 32 HP:0000577
38 fair hair 32 HP:0002286
39 flat occiput 32 HP:0005469
40 progressive gait ataxia 32 HP:0007240
41 clumsiness 32 hallmark (90%) HP:0002312
42 limb tremor 32 HP:0200085
43 paroxysmal bursts of laughter 32 HP:0000749
44 neurological speech impairment 56 Very frequent (99-80%)
45 deeply set eye 32 HP:0000490
46 abnormality of the face 56 Very frequent (99-80%)
47 hypopigmentation of the skin 32 HP:0001010

UMLS symptoms related to Angelman Syndrome:


constipation, seizures

MGI Mouse Phenotypes related to Angelman Syndrome:

44 (showing 1, show less)
id Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.32 CDKL5 GABRA5 GABRB3 HUWE1 MAGEL2 MBD4

Drugs & Therapeutics for Angelman Syndrome

Drugs for Angelman Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 48, show less)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carbidopa Approved Phase 2, Phase 3,Phase 1 28860-95-9 34359 38101
2
Dopamine Approved Phase 2, Phase 3,Phase 1 51-61-6, 62-31-7 681
3
Levodopa Approved Phase 2, Phase 3,Phase 1 59-92-7 6047
4
Melatonin Approved, Nutraceutical, Vet_approved Phase 3,Phase 1 73-31-4 896
5 Antiparkinson Agents Phase 2, Phase 3,Phase 1
6 Aromatic Amino Acid Decarboxylase Inhibitors Phase 2, Phase 3,Phase 1
7 Carbidopa, levodopa drug combination Phase 2, Phase 3,Phase 1
8 Dihydroxyphenylalanine Phase 2, Phase 3,Phase 1
9 Dopamine Agents Phase 2, Phase 3,Phase 1
10 Neurotransmitter Agents Phase 2, Phase 3,Phase 1
11 Antioxidants Phase 3,Phase 1
12 Central Nervous System Depressants Phase 3,Phase 1
13 Protective Agents Phase 3,Phase 1
14
Minocycline Approved, Investigational Phase 2 10118-90-8 5281021
15
Gaboxadol Investigational Phase 2,Phase 1 64603-91-4 3448
16 Anti-Bacterial Agents Phase 2
17 Anti-Infective Agents Phase 2
18 Micronutrients Phase 2
19 Trace Elements Phase 2
20 Analgesics Phase 2
21 Anticonvulsants Phase 2
22 GABA Agents Phase 2
23 GABA Agonists Phase 2
24 Peripheral Nervous System Agents Phase 2
25 Adjuvants, Immunologic Phase 1
26 Dopamine agonists Phase 1
27
Tetracycline Approved, Vet_approved 60-54-8 5353990
28
Hydroxocobalamin Approved 13422-51-0 11953898 5460373 44475014
29
Betaine Approved, Nutraceutical 107-43-7 247
30
Cyanocobalamin Approved, Nutraceutical 68-19-9 44176380
31
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
32 Antacids
33 Anti-Ulcer Agents
34 Calcium, Dietary
35 Vitamins
36 Antimetabolites
37 Gastrointestinal Agents
38 Hematinics
39 Hypolipidemic Agents
40 Lipid Regulating Agents
41 Vitamin B 12
42 Vitamin B Complex
43
Cobalamin Nutraceutical 13408-78-1 6438156
44
Creatine Nutraceutical 57-00-1 586
45 Folate Nutraceutical
46
Methylcobalamin Experimental, Nutraceutical 13422-55-4
47 Vitamin B12 Nutraceutical
48 Vitamin B9 Nutraceutical

Interventional clinical trials:

(showing 17, show less)

id Name Status NCT ID Phase Drugs
1 A Trial of Levodopa in Angelman Syndrome Completed NCT01281475 Phase 2, Phase 3 Levodopa;Placebo Oral Capsule
2 Efficacy and Safety of Circadin® in the Treatment of Sleep Disturbances in Children With Neurodevelopment Disabilities Active, not recruiting NCT01906866 Phase 3 Circadin 2/5/10 mg;Placebo
3 Study to Evaluate the Efficacy and Safety of Minocycline in Angelman Syndrome Completed NCT02056665 Phase 2 MINOCYCLINE;PLACEBO (for Minocycline)
4 A Study in Adults With Angelman Syndrome Recruiting NCT02996305 Phase 2 OV101 Regimen 1;OV101 regimen 2
5 An Exploratory Open Label Study of EPI-743 (Vincerinone TM) in Children With Autism Spectrum Disorder Withdrawn NCT02226458 Phase 2 EPI-743
6 Study on Tolerability of Levodopa/Carbidopa in Children With Angelman Syndrome Completed NCT00829439 Phase 1 Levodopa/Carbidopa (4:1)
7 Assessment of the Pharmacokinetics of Circadin® in Children With Neurodevelopmental Disorders and Sleep Disturbances Completed NCT01903681 Phase 1 Circadin 2 mg;Circadin 10 mg
8 Single Dose Pharmacokinetic (PK) Study Active, not recruiting NCT03109756 Phase 1 OV101
9 Minocycline in the Treatment of Angelman Syndrome Unknown status NCT01531582 minocycline
10 Dietary Supplements for the Treatment of Angelman Syndrome Completed NCT00348933 Betaine;Creatine;Metafolin;Vitamin B12
11 Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PW Completed NCT02670694
12 Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes Completed NCT00004351
13 Genomic Imprinting and Assisted Reproductive Technologies Completed NCT00773825
14 Effects of Creatine Supplementation in Rett Syndrome Completed NCT01147575
15 SNP-based Microdeletion and Aneuploidy RegisTry (SMART) Recruiting NCT02381457
16 Characterization of Angelman Syndrome Active, not recruiting NCT00296764
17 Clinical Trial of Levodopa/Carbidopa ( Sinemet) Therapy in Angel Man Syndrome Enrolling by invitation NCT03235037 Levodopa

Search NIH Clinical Center for Angelman Syndrome

Cochrane evidence based reviews: angelman syndrome

Genetic Tests for Angelman Syndrome

Genetic tests related to Angelman Syndrome:

id Genetic test Affiliating Genes
1 Angelman Syndrome 29 24 UBE3A

Anatomical Context for Angelman Syndrome

MalaCards organs/tissues related to Angelman Syndrome:

39
Tongue, Brain, Testes, Eye, Skin, Cortex, Cerebellum

Publications for Angelman Syndrome

Articles related to Angelman Syndrome:

(showing 614, show less)
id Title Authors Year
1
Hypersociability in the Angelman syndrome mouse model. ( 28411125 )
2017
2
Enhanced nociception in Angelman syndrome model mice. ( 28931574 )
2017
3
Angelman syndrome and anaesthetic considerations. ( 28216711 )
2017
4
Urothelial Carcinoma in a 22-Year-Old Female with Angelman Syndrome. ( 28487808 )
2017
5
Atypical Angelman syndrome due to a mosaic imprinting defect: Case reports and review of the literature. ( 28211971 )
2017
6
Incontinence in persons with Angelman syndrome. ( 28000035 )
2017
7
Early Origin and Evolution of the Angelman Syndrome Ubiquitin Ligase Gene Ube3a. ( 28326016 )
2017
8
Left ventricular dysfunction in a patient with Angelman syndrome. ( 28877039 )
2017
9
Main causes of hospitalization in people with Angelman syndrome. ( 28869323 )
2017
10
Low glycemic index treatment for seizure control in Angelman syndrome: A case series from the Center for Dietary Therapy of Epilepsy at the Massachusetts General Hospital. ( 28109989 )
2017
11
Epilepsy and sleep disorders improve in adolescents and adults with Angelman syndrome: A multicenter study on 46 patients. ( 28827041 )
2017
12
Disrupted neuronal maturation in Angelman syndrome-derived induced pluripotent stem cells. ( 28436452 )
2017
13
Angelman Syndrome due to a Maternally Inherited Intragenic Deletion Encompassing Exons 7 and 8 of the UBE3A Gene. ( 28898887 )
2017
14
Prevalence of gastrointestinal symptoms in Angelman syndrome. ( 28816003 )
2017
15
In vivo imaging of prodromal hippocampus CA1 subfield oxidative stress in models of Alzheimer disease and Angelman syndrome. ( 28592637 )
2017
16
Activity-Dependent Arc Expression and Homeostatic Synaptic Plasticity Are Altered in Neurons from a Mouse Model of Angelman Syndrome. ( 28804447 )
2017
17
Sleep in children with Angelman syndrome: Parental concerns and priorities. ( 28844022 )
2017
18
Eye gaze and pupillary response in Angelman syndrome. ( 28750207 )
2017
19
UBE3A loss increases excitability and blunts orientation tuning in the visual cortex of Angelman syndrome model mice. ( 28468997 )
2017
20
Angelman Syndrome: Identification and Management. ( 28494826 )
2017
21
Strain-dependence of the Angelman Syndrome phenotypes in Ube3a maternal deficiency mice. ( 28814801 )
2017
22
Decreased Axon Caliber Underlies Loss of Fiber Tract Integrity, Disproportional Reductions in White Matter Volume, and Microcephaly in Angelman Syndrome Model Mice. ( 28663201 )
2017
23
A web-based, patient driven registry for Angelman syndrome: the global Angelman syndrome registry. ( 28764722 )
2017
24
Rescue of altered HDAC activity recovers behavioural abnormalities in a mouse model of Angelman syndrome. ( 28576709 )
2017
25
Exploring Expressive Communication Skills in a Cross-Sectional Sample of Children and Young Adults With Angelman Syndrome. ( 28384804 )
2017
26
A randomized controlled trial of levodopa in patients with Angelman syndrome. ( 28944563 )
2017
27
Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis. ( 28503211 )
2017
28
Sleep in Angelman syndrome: A review of evidence. ( 28784434 )
2017
29
Effects of the synthetic neurosteroid ganaxolone on seizure activity and behavioral deficits in an Angelman syndrome mouse model. ( 27986596 )
2016
30
Pharmacological therapies for Angelman syndrome. ( 26758979 )
2016
31
Protein Delivery of an Artificial Transcription Factor Restores Widespread Ube3a Expression in an Angelman Syndrome Mouse Brain. ( 26727042 )
2016
32
Description and Evaluation of a Home-Based, Parent-Administered Program for Teaching Enhanced Natural Gestures to Individuals With Angelman Syndrome. ( 26847597 )
2016
33
Persistent neuronal Ube3a expression in the suprachiasmatic nucleus of Angelman syndrome model mice. ( 27306933 )
2016
34
Angelman Syndrome Caused by Chromosomal Rearrangements: A Case Report of 46,XX,+der(13)t(13;15)(q14.1;q12)mat,-15 with an Atypical Phenotype and Review of the Literature. ( 27771696 )
2016
35
Analysis of peripheral amyloid precursor protein in Angelman Syndrome. ( 27327493 )
2016
36
A modified MS-PCR approach to diagnose patients with Prader-Willi and Angelman syndrome. ( 27535666 )
2016
37
Applicability of genetic polymorphism analysis for the diagnosis of Angelman syndrome and the correlation between language difficulties and disease phenotype. ( 27323188 )
2016
38
Angelman Syndrome Protein Ube3a Regulates Synaptic Growth and Endocytosis by Inhibiting BMP Signaling in Drosophila. ( 27232889 )
2016
39
Angelman Syndrome in the Portrait of a Child With a Drawing by Giovanni F. Caroto. ( 27380555 )
2016
40
Quantitative Measurement of Communication Ability in Children with Angelman Syndrome. ( 27990716 )
2016
41
Scrutinizing brain magnetic resonance imaging patterns in Angelman syndrome. ( 26954797 )
2016
42
Angelman syndrome: Current and emerging therapies in 2016. ( 27860204 )
2016
43
Patients with mosaic methylation patterns of the Prader-Willi/Angelman Syndrome critical region exhibit AS-like phenotypes with some PWS features. ( 27006693 )
2016
44
Angelman syndrome - insights into a rare neurogenetic disorder. ( 27615419 )
2016
45
Epilepsy and cataplexy in Angelman syndrome. Genotype-phenotype correlations. ( 27323320 )
2016
46
Genetically Dissecting Cortical Neurons Involved in Epilepsy in Angelman Syndrome. ( 27054611 )
2016
47
Prenatal diagnosis and genetic counseling in a fetus associated with risk of Angelman syndrome with a small supernumerary marker chromosome derived from chromosome 22. ( 27148405 )
2016
48
Reflex seizures in a patient with Angelman syndrome and trisomy 21. ( 26972081 )
2016
49
Clinical Application of an Innovative Multiplex-Fluorescent-Labeled STRs Assay for Prader-Willi Syndrome and Angelman Syndrome. ( 26841067 )
2016
50
Environmental Enrichment Improves Behavioral Abnormalities in a Mouse Model of Angelman Syndrome. ( 27581300 )
2016
51
Sedation with dexmedetomidine for conducting electroencephalogram in a patient with Angelman syndrome: a case report. ( 26952234 )
2016
52
Angelman Syndrome: A Case Report. ( 27247589 )
2016
53
Angelman syndrome in Hong Kong Chinese: A 20 years' experience. ( 27174604 )
2016
54
Seizure treatment in Angelman syndrome: A case series from the Angelman Syndrome Clinic at Massachusetts General Hospital. ( 27206232 )
2016
55
mTORC1-S6K1 inhibition or mTORC2 activation improves hippocampal synaptic plasticity and learning in Angelman syndrome mice. ( 27173058 )
2016
56
Angelman syndrome in an infant boy. ( 27575902 )
2016
57
Ketone ester supplementation attenuates seizure activity, and improves behavior and hippocampal synaptic plasticity in an Angelman syndrome mouse model. ( 27546058 )
2016
58
From Cortical and Subcortical Grey Matter Abnormalities to Neurobehavioral Phenotype of Angelman Syndrome: A Voxel-Based Morphometry Study. ( 27626634 )
2016
59
Neurodevelopmental profile in Angelman syndrome: more than low intelligence quotient. ( 27769316 )
2016
60
GABAergic Neuron-Specific Loss of Ube3a Causes Angelman Syndrome-Like EEG Abnormalities and Enhances Seizure Susceptibility. ( 27021170 )
2016
61
Angelman syndrome-derived neurons display late onset of paternal UBE3A silencing. ( 27484051 )
2016
62
Angelman Syndrome: A Review Highlighting Musculoskeletal and Anatomical Aberrations. ( 26480021 )
2015
63
Neurodevelopmental disorders. Unmuting Ube3a in mice alleviates Angelman syndrome. ( 25511900 )
2015
64
Brief Report: A Longitudinal Study of Excessive Smiling and Laughing in Children with Angelman Syndrome. ( 25749713 )
2015
65
Of mothers and myelin: Aberrant myelination phenotypes in mouse model of Angelman syndrome are dependent on maternal and dietary influences. ( 26028516 )
2015
66
Imbalanced mechanistic target of rapamycin c1 and c2 activity in the cerebellum of angelman syndrome mice impairs motor function. ( 25788687 )
2015
67
Dissociation of locomotor and cerebellar deficits in a murine Angelman syndrome model. ( 26485287 )
2015
68
Ube3a reinstatement identifies distinct developmental windows in a murine Angelman syndrome model. ( 25866966 )
2015
69
Genetic heterogenicity of Angelman syndrome and its significance to the anesthesiologist. ( 25558215 )
2015
70
Angelman Syndrome due to familial translocation: unexpected additional results characterized by Microarray-based Comparative Genomic Hybridization. ( 25901183 )
2015
71
Behaviour and neuroanatomy in Angelman Syndrome mice. ( 26531481 )
2015
72
Angelman Syndrome. ( 26040994 )
2015
73
Myoclonic status and central fever in Angelman syndrome due to paternal uniparental disomy. ( 26559560 )
2015
74
Angelman syndrome: The blurred lines of interpretation in cognitive defects. ( 25878752 )
2015
75
The neurobehavioral and molecular phenotype of Angelman Syndrome. ( 26219744 )
2015
76
Mild Angelman syndrome phenotype due to a mosaic methylation imprinting defect. ( 25899869 )
2015
77
Correction for Lewis et al., Angelman syndrome imprinting center encodes a transcriptional promoter. ( 25588880 )
2015
78
Yin-and-Yang of mTORC1/C2 in Angelman syndrome mice. ( 26116835 )
2015
79
Reelin supplementation recovers synaptic plasticity and cognitive deficits in a mouse model for Angelman syndrome. ( 25864922 )
2015
80
Mitochondrial Superoxide Contributes to Hippocampal Synaptic Dysfunction and Memory Deficits in Angelman Syndrome Model Mice. ( 26658871 )
2015
81
The Effect of Menstrual Issues on Young Women with Angelman Syndrome. ( 26718530 )
2015
82
Angelman syndrome-associated ubiquitin ligase UBE3A/E6AP mutants interfere with the proteolytic activity of the proteasome. ( 25633294 )
2015
83
Parent stress across molecular subtypes of children with Angelman syndrome. ( 25833412 )
2015
84
Phenotype of a child with Angelman syndrome born to a woman with Prader-Willi syndrome. ( 25832033 )
2015
85
Angelman syndrome presenting with a rare seizure type in a patient with 15q11.2 deletion: a case report. ( 26077608 )
2015
86
From UBE3A to Angelman syndrome: a substrate perspective. ( 26441497 )
2015
87
Ube3a imprinting impairs circadian robustness in Angelman syndrome models. ( 25660546 )
2015
88
Toward a broader view of ube3a in a mouse model of angelman syndrome: expression in brain, spinal cord, sciatic nerve and glial cells. ( 25894543 )
2015
89
Uncovering a Role for SK2 in Angelman Syndrome. ( 26200312 )
2015
90
Potential therapeutic approaches for Angelman syndrome. ( 26558806 )
2015
91
Teaching discriminated social approaches to individuals with Angelman syndrome. ( 26250932 )
2015
92
Impaired adult hippocampal neurogenesis and its partial reversal by chronic treatment of fluoxetine in a mouse model of Angelman syndrome. ( 26231800 )
2015
93
Seizure-like activity in a juvenile Angelman syndrome mouse model is attenuated by reducing Arc expression. ( 25848016 )
2015
94
Administration of CoQ10 analogue ameliorates dysfunction of the mitochondrial respiratory chain in a mouse model of Angelman syndrome. ( 25684537 )
2015
95
Angelman syndrome and isovaleric acidemia: What is the link? ( 26937393 )
2015
96
Prenatal diagnosis of Prader-Willi syndrome and Angelman syndrome for fetuses with suspicious deletion of chromosomal region 15q11-q13. ( 24434231 )
2014
97
Revisiting epilepsy and the electroencephalogram patterns in Angelman syndrome. ( 24395242 )
2014
98
Deletion of UBE3A in brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2. ( 25099823 )
2014
99
Does parent of origin matter? Methylation studies should be performed on patients with multiple copies of the Prader-Willi/Angelman syndrome critical region. ( 24975781 )
2014
100
Angelman syndrome: review of clinical and molecular aspects. ( 24876791 )
2014
101
A retrospective review to assess whether spinal fusion and scoliosis correction improved activity and participation for children with Angelman syndrome: Brief report. ( 25549057 )
2014
102
Angelman syndrome imprinting center encodes a transcriptional promoter. ( 25378697 )
2014
103
Changes in mGlu5 receptor-dependent synaptic plasticity and coupling to homer proteins in the hippocampus of Ube3A hemizygous mice modeling angelman syndrome. ( 24672001 )
2014
104
Episodic tremors representing cortical myoclonus are characteristic in Angelman syndrome due to UBE3A mutations. ( 24796722 )
2014
105
Reversal of reduced parvalbumin neurons in hippocampus and amygdala of Angelman syndrome model mice by chronic treatment of fluoxetine. ( 24678582 )
2014
106
Disruption of the LTD dialogue between the cerebellum and the cortex in Angelman syndrome model: a timing hypothesis. ( 25477791 )
2014
107
Increased body mass in infancy and early toddlerhood in Angelman syndrome patients with uniparental disomy and imprinting center defects. ( 25402239 )
2014
108
Eating behavior, prenatal and postnatal growth in Angelman syndrome. ( 25064682 )
2014
109
Mutation Update for UBE3A Variants in Angelman Syndrome. ( 25212744 )
2014
110
Overview of the Enhanced Natural Gestures Instructional Approach and Illustration of Its Use with Three Students with Angelman Syndrome. ( 24917540 )
2014
111
The prospect of molecular therapy for Angelman syndrome and other monogenic neurologic disorders. ( 24946931 )
2014
112
Neurodevelopmental outcome in Angelman syndrome: genotype-phenotype correlations. ( 24656292 )
2014
113
Uroflowmetric assessment in participants with Angelman syndrome. ( 24483168 )
2014
114
Somatic and germ-line mosaicism of deletion 15q11.2-q13 in a mother of dyzigotic twins with Angelman syndrome. ( 24311297 )
2014
115
Clinical utility gene card for: Angelman Syndrome. ( 24896151 )
2014
116
An open-label pilot trial of minocycline in children as a treatment for Angelman syndrome. ( 25491305 )
2014
117
Neurodevelopmental Underpinnings of Angelman Syndrome. ( 26491538 )
2014
118
Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13. ( 25379297 )
2014
119
Electroencephalogram (EEG) Duration Needed to Detect Abnormalities in Angelman Syndrome: Is 1 Hour of Overnight Recording Sufficient? ( 24820335 )
2014
120
Parents' perceptions of communication patterns and effectiveness of use of augmentative and alternative communication systems by their children with angelman syndrome. ( 24700165 )
2014
121
Activity-dependent changes in MAPK activation in the Angelman Syndrome mouse model. ( 24434871 )
2014
122
Sodium-potassium ATPase emerges as a player in hippocampal phenotypes of Angelman syndrome mice. ( 24501262 )
2014
123
Screening of UBE3A gene in patients referred for Angelman Syndrome. ( 23416059 )
2013
124
Ube3a, the E3 ubiquitin ligase causing Angelman syndrome and linked to autism, regulates protein homeostasis through the proteasomal shuttle Rpn10. ( 24292889 )
2013
125
Recurrence of Angelman Syndrome in Siblings: Challenges in Genetic Counseling. ( 24288033 )
2013
126
The Angelman syndrome protein Ube3a/E6AP is required for Golgi acidification and surface protein sialylation. ( 23447592 )
2013
127
Implications of slow waves and shifting epileptiform discharges in Angelman syndrome. ( 22704603 )
2013
128
Discrimination training reduces high rate social approach behaviors in Angelman syndrome: proof of principle. ( 23518390 )
2013
129
Toilet training in individuals with Angelman syndrome: A case series. ( 23957894 )
2013
130
Diagnostic approach of angelman syndrome. ( 24790661 )
2013
131
Truncation of Ube3a-ATS Unsilences Paternal Ube3a and Ameliorates Behavioral Defects in the Angelman Syndrome Mouse Model. ( 24385930 )
2013
132
Angelman syndrome. ( 23622177 )
2013
133
Region-specific impairments in striatal synaptic transmission and impaired instrumental learning in a mouse model of Angelman syndrome. ( 24329862 )
2013
134
Angelman syndrome in Denmark. birth incidence, genetic findings, and age at diagnosis. ( 23913711 )
2013
135
Communication modality sampling for a toddler with Angelman syndrome. ( 24124202 )
2013
136
Molecular and clinical characterization of Angelman syndrome in Chinese patients. ( 23551092 )
2013
137
Angelman syndrome caused by deletion: a genotype-phenotype correlation determined by breakpoint. ( 23352739 )
2013
138
Behavioral deficits in an Angelman syndrome model: effects of genetic background and age. ( 23295389 )
2013
139
Parents' reports of patterns of use and exposure to practices associated with AAC acceptance by individuals with Angelman syndrome. ( 23621361 )
2013
140
Neurologic manifestations of Angelman syndrome. ( 23498559 )
2013
141
Dental findings and special care in patients with Angelman syndrome: a report of three cases. ( 23278148 )
2013
142
Angelman syndrome and severe infections in a patient with de novo 15q11.2-q13.1 deletion and maternally inherited 2q21.3 microdeletion. ( 23124039 )
2013
143
Impairment of TrkB-PSD-95 signaling in Angelman syndrome. ( 23424281 )
2013
144
Angelman syndrome due to a termination codon mutation of the UBE3A gene. ( 22566713 )
2013
145
Use and acceptance of AAC systems by children with Angelman syndrome. ( 23606637 )
2013
146
Evaluation of a behavioral treatment package to reduce sleep problems in children with Angelman Syndrome. ( 23123881 )
2013
147
Angelman syndrome in three biological siblings: Focusing on the neuropsychiatric domain. ( 24470816 )
2013
148
Recurrent fractures as a new skeletal problem in the course of Angelman syndrome. ( 23747006 )
2013
149
The Angelman syndrome protein Ube3a is required for polarized dendrite morphogenesis in pyramidal neurons. ( 23283345 )
2013
150
Genetic reduction of the I+1 subunit of Na/K-ATPase corrects multiple hippocampal phenotypes in Angelman syndrome. ( 23911285 )
2013
151
A study of two Chinese patients with tetrasomy and pentasomy 15q11q13 including Prader-Willi/Angelman syndrome critical region present with developmental delays and mental impairment. ( 23320815 )
2013
152
Incontinence in individuals with Angelman syndrome: a comparative study. ( 24076983 )
2013
153
Early detection of Angelman syndrome resulting from de novo paternal isodisomic 15q UPD and review of comparable cases. ( 24011290 )
2013
154
Molecular and Clinical Aspects of Angelman Syndrome. ( 22670133 )
2012
155
Sudden death and Angelman syndrome. ( 21854386 )
2012
156
Dental treatment in Angelman syndrome patients. 8 case reports. ( 23270298 )
2012
157
Relationship between aberrant brain connectivity and clinical features in Angelman Syndrome: a new method using tract based spatial statistics of DTI color-coded orientation maps. ( 21827860 )
2012
158
Neurodevelopmental outcomes in children with Angelman syndrome after 1 year of behavioural intervention. ( 22646082 )
2012
159
Longitudinal follow-up of autism spectrum features and sensory behaviors in Angelman syndrome by deletion class. ( 21831244 )
2012
160
Are children with Angelman syndrome at high risk for anesthetic complications? ( 21801274 )
2012
161
Understanding the pathogenesis of Angelman syndrome through animal models. ( 22830052 )
2012
162
Another cause of vaccine encephalopathy: a case of Angelman syndrome. ( 22342448 )
2012
163
Ca(2+)/calmodulin-dependent protein kinase III+ (I+CaMKII) controls the activity of the dopamine transporter: implications for Angelman syndrome. ( 22778257 )
2012
164
Reversal of impaired hippocampal long-term potentiation and contextual fear memory deficits in Angelman syndrome model mice by ErbB inhibitors. ( 22381732 )
2012
165
Angelman syndrome: Drugs to awaken a paternal gene. ( 22190038 )
2012
166
Pathway-specific dopaminergic deficits in a mouse model of Angelman syndrome. ( 23143301 )
2012
167
Sibling relationships in individuals with Angelman syndrome: a comparative study. ( 22296525 )
2012
168
Functional analysis and functional communication training in individuals with Angelman syndrome. ( 22494082 )
2012
169
Angelman syndrome and thyroid dysfunction. ( 23072182 )
2012
170
Epilepsy in Korean patients with Angelman syndrome. ( 22670152 )
2012
171
De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15)s. ( 22720067 )
2012
172
Melatonin profile and its relation to circadian rhythm sleep disorders in Angelman syndrome patients. ( 22841843 )
2012
173
Decreased tonic inhibition in cerebellar granule cells causes motor dysfunction in a mouse model of Angelman syndrome. ( 23220633 )
2012
174
Neurodevelopmental disorders: Unsilencing dormant Ube3a--hope for Angelman syndrome? ( 22270025 )
2012
175
Low glycemic index treatment for seizures in Angelman syndrome. ( 22779920 )
2012
176
Maternal UBE3A in Angelman syndrome: "the rest is silence"? ( 22552181 )
2012
177
Analysis of EEG patterns and genotypes in patients with Angelman syndrome. ( 22341959 )
2012
178
Defective glucocorticoid hormone receptor signaling leads to increased stress and anxiety in a mouse model of Angelman syndrome. ( 22215440 )
2012
179
Sleep in children and adolescents with Angelman syndrome: association with parent sleep and stress. ( 22044653 )
2012
180
1031-1034delTAAC (Leu125Stop): a novel familial UBE3A mutation causing Angelman syndrome in two siblings showing distinct phenotypes. ( 23256887 )
2012
181
Altered serotonin, dopamine and norepinepherine levels in 15q duplication and Angelman syndrome mouse models. ( 22916201 )
2012
182
Adeno-associated virus-mediated rescue of the cognitive defects in a mouse model for Angelman syndrome. ( 22174738 )
2011
183
A loss-of-function mutation in the SLC9A6 gene causes X-linked mental retardation resembling Angelman syndrome. ( 21812100 )
2011
184
Alterations in white matter pathways in Angelman syndrome. ( 21121904 )
2011
185
Alterations in intrinsic membrane properties and the axon initial segment in a mouse model of Angelman syndrome. ( 22131424 )
2011
186
Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes. ( 21592595 )
2011
187
Intragenic deletion of UBE3A gene in 2 sisters with Angelman syndrome detected by MLPA. ( 22065487 )
2011
188
UBE3A regulates MC1R expression: a link to hypopigmentation in Angelman syndrome. ( 21733131 )
2011
189
Angelman syndrome: Mutations influence features in early childhood. ( 21204213 )
2011
190
Angelman syndrome protein UBE3A interacts with primary microcephaly protein ASPM, localizes to centrosomes and regulates chromosome segregation. ( 21633703 )
2011
191
Angelman syndrome: advancing the research frontier of neurodevelopmental disorders. ( 21484597 )
2011
192
Novel deletion encompassing exons 5-12 of the UBE3A gene in a girl with Angelman syndrome. ( 21397058 )
2011
193
Transcription is required to establish maternal imprinting at the Prader-Willi syndrome and Angelman syndrome locus. ( 22242001 )
2011
194
Angelman syndrome and pseudo-hypsarrhythmia: a diagnostic pitfall. ( 21865124 )
2011
195
A novel missense mutation of the ubiquitin protein ligase E3A gene in a patient with Angelman syndrome. ( 21362313 )
2011
196
Ophthalmic findings in Angelman syndrome. ( 21596294 )
2011
197
Age related change in social behavior in children with Angelman syndrome. ( 21567915 )
2011
198
Normal social seeking behavior, hypoactivity and reduced exploratory range in a mouse model of Angelman syndrome. ( 21235769 )
2011
199
Effects of adult familiarity on social behaviours in Angelman syndrome. ( 21255175 )
2011
200
Abnormal language pathway in children with Angelman syndrome. ( 21481743 )
2011
201
Mitochondrial dysfunction in CA1 hippocampal neurons of the UBE3A deficient mouse model for Angelman syndrome. ( 19563863 )
2011
202
Angelman syndrome and prenatally diagnosed Prader-Willi syndrome in first cousins. ( 21964995 )
2011
203
A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome. ( 22002941 )
2011
204
Allelic dropout can cause false-positive results for Prader-Willi and Angelman syndrome testing. ( 21227401 )
2011
205
A novel UBE3A truncating mutation in large Tunisian Angelman syndrome pedigree. ( 20034088 )
2010
206
Epilepsy in patients with Angelman syndrome. ( 20398390 )
2010
207
Angelman syndrome at the synapse: meeting report of the Angelman Syndrome Foundation's 2009 scientific symposium. ( 20101047 )
2010
208
Angelman syndrome and celiac disease. ( 20617869 )
2010
209
Clinical and genetic aspects of Angelman syndrome. ( 20445456 )
2010
210
Adaptive behaviour in Angelman syndrome: its profile and relationship to age. ( 20854288 )
2010
211
Genome-wide gene expression profiling of the Angelman syndrome mice with Ube3a mutation. ( 20571502 )
2010
212
Loss of dopaminergic neurons and resulting behavioural deficits in mouse model of Angelman syndrome. ( 20696245 )
2010
213
A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype. ( 20382277 )
2010
214
The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arc. ( 20211139 )
2010
215
Angelman syndrome, a genomic imprinting disorder of the brain. ( 20668179 )
2010
216
Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid. ( 20635355 )
2010
217
Regulation of the polycomb protein Ring1B by self-ubiquitination or by E6-AP may have implications to the pathogenesis of Angelman syndrome. ( 20351251 )
2010
218
Parents' priorities for AAC and related instruction for their children with Angelman Syndrome. ( 20196702 )
2010
219
Maternal parenting stress in families with a child with Angelman syndrome or Prader-Willi syndrome. ( 20809878 )
2010
220
Altered ultrasonic vocalization and impaired learning and memory in Angelman syndrome mouse model with a large maternal deletion from Ube3a to Gabrb3. ( 20808828 )
2010
221
A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations. ( 20729760 )
2010
222
The behavioral phenotype of the Angelman syndrome. ( 20981772 )
2010
223
Ketogenic diet in a patient with Angelman syndrome. ( 20880305 )
2010
224
Do the physiotherapy results make us happy in a case with 'happy puppet' (Angelman) syndrome? ( 22802472 )
2010
225
Two percent of patients suspected of having Angelman syndrome have TCF4 mutations. ( 20184619 )
2010
226
Tissue-specific variation of Ube3a protein expression in rodents and in a mouse model of Angelman syndrome. ( 20423730 )
2010
227
Prader-Willi syndrome and Angelman syndrome. ( 20803659 )
2010
228
Partial hexasomy for the Prader-Willi-Angelman syndrome critical region due to a maternally inherited large supernumerary marker chromosome. ( 20602489 )
2010
229
Preview. Angelman syndrome: finding the lost arc. ( 20211128 )
2010
230
Abnormal myelination in Angelman syndrome. ( 19720548 )
2010
231
Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome. ( 21072004 )
2010
232
Neuroscience: Angelman syndrome connections. ( 21164477 )
2010
233
Levetiracetam in nonconvulsive status epilepticus in a child with Angelman syndrome. ( 19605773 )
2010
234
Anesthetic management in a child with Angelman syndrome. ( 20642665 )
2010
235
Refractive lens exchange with intraocular lens implantation in hyperopic eyes of a patient with Angelman syndrome. ( 20656169 )
2010
236
Anesthesia of a dental patient with Angelman syndrome -A case report-. ( 20498802 )
2010
237
Altered GABA(A) receptor subunit expression and pharmacology in human Angelman syndrome cortex. ( 20692323 )
2010
238
Abnormal myelination in Angelman syndrome. ( 18573670 )
2009
239
Benefit of corticosteroid therapy in Angelman syndrome. ( 19666884 )
2009
240
Epilepsy and the sleep-wake patterns found in Angelman syndrome. ( 19453716 )
2009
241
Epilepsy in Angelman syndrome: a questionnaire-based assessment of the natural history and current treatment options. ( 19453717 )
2009
242
Tyrosinemia type 1 and Angelman syndrome due to paternal uniparental isodisomy 15. ( 20033293 )
2009
243
What would the brain look like in Angelman syndrome? ( 18824378 )
2009
244
Angelman syndrome scientific symposium on the structure and function of UBE3A/E6AP. ( 19617463 )
2009
245
The Drosophila homologue of the Angelman syndrome ubiquitin ligase regulates the formation of terminal dendritic branches. ( 18996915 )
2009
246
Detection and discrimination between deletional and non-deletional Prader-Willi and Angelman syndromes by methylation-specific PCR and quantitative melting curve analysis. ( 19661385 )
2009
247
Novel UBE3A mutations causing Angelman syndrome: different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions. ( 19213023 )
2009
248
Experimental functional analysis of aggression in children with Angelman syndrome. ( 19361955 )
2009
249
Schatzki's Ring in Angelman Syndrome: A Diagnostic Dilemma in Neurodevelopmentally Disabled Patients. ( 22505969 )
2009
250
Angelman syndrome (AS, MIM 105830). ( 19455185 )
2009
251
Impaired hippocampal plasticity and altered neurogenesis in adult Ube3a maternal deficient mouse model for Angelman syndrome. ( 19782683 )
2009
252
Novel human pathological mutations. Gene symbol: UBE3A. Disease: Angelman Syndrome. ( 19693993 )
2009
253
Functioning and disability in patients with Angelman syndrome: utility of the International Classification of functioning disability and health, children and youth adaptation framework. ( 19968524 )
2009
254
Anaesthesia for an adult with Angelman syndrome. ( 19825063 )
2009
255
Angelman syndrome: current understanding and research prospects. ( 19874386 )
2009
256
Epilepsy in Angelman syndrome. ( 17904873 )
2008
257
Behavior and neuropsychiatric manifestations in Angelman syndrome. ( 18830393 )
2008
258
A Drosophila model for Angelman syndrome. ( 18701717 )
2008
259
Melatonin for chronic insomnia in Angelman syndrome: a randomized placebo-controlled trial. ( 18539989 )
2008
260
[(11)C]flumazenil positron emission tomography analyses of brain gamma-aminobutyric acid type A receptors in Angelman syndrome. ( 18346513 )
2008
261
Gene symbol: UBE3A. Disease: Angelman syndrome. ( 20960605 )
2008
262
Preference for water-related items in Angelman syndrome, Down syndrome and non-specific intellectual disability. ( 18300168 )
2008
263
Anaesthesia for Angelman syndrome. ( 18477280 )
2008
264
Behavioural flexibility in individuals with Angelman syndrome, Down syndrome, non-specific intellectual disability and Autism spectrum disorder. ( 18384537 )
2008
265
Long-standing fever and Angelman syndrome: report of two cases. ( 18416709 )
2008
266
Comments on a case report of Angelman syndrome anaesthesia. ( 18821896 )
2008
267
A review of physical, behavioral, and oral characteristics associated with Treacher Collins syndrome, Goldenhar syndrome, and Angelman syndrome. ( 18683396 )
2008
268
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome. ( 18342287 )
2008
269
Angelman syndrome: clinical findings and follow-up data of 14 patients. ( 18664077 )
2008
270
Aberrant somatosensory-evoked responses imply GABAergic dysfunction in Angelman syndrome. ( 17962046 )
2008
271
Angelman syndrome due to a novel splicing mutation of the UBE3A gene. ( 18487518 )
2008
272
Gene symbol: UBE3A. Disease: Angelman syndrome. ( 18846633 )
2008
273
Vagal hypertonia and anesthesia in Angelman syndrome. ( 18315655 )
2008
274
Dental treatment of children with Angelman syndrome: a case report. ( 18271768 )
2008
275
A new case of mosaicism for invdup(15) duplicated for Prader-Willi/Angelman syndrome critical region (PWACR) in an adult healthy man. ( 18378203 )
2008
276
Are there distinctive sleep problems in Angelman syndrome? ( 17765640 )
2008
277
The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology. ( 17940072 )
2008
278
Atypical Angelman syndrome with macrocephaly due to a familial imprinting center deletion. ( 17975803 )
2008
279
Angelman syndrome and anesthesia. ( 19076580 )
2008
280
Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations. ( 17522620 )
2007
281
Parent report of stereotyped behaviors, social interaction, and developmental disturbances in individuals with Angelman syndrome. ( 17019625 )
2007
282
Imprinting center analysis in Prader-Willi and Angelman syndrome patients with typical and atypical phenotypes. ( 17095305 )
2007
283
Cryptic duplication of 12q24.33 --> qter in a child with Angelman syndrome-simultaneous occurrence of two unrelated cytogenetic events. ( 17394213 )
2007
284
Rescue of neurological deficits in a mouse model for Angelman syndrome by reduction of alphaCaMKII inhibitory phosphorylation. ( 17259980 )
2007
285
Methylation-sensitive high-resolution melting-curve analysis of the SNRPN gene as a diagnostic screen for Prader-Willi and Angelman syndromes. ( 17890436 )
2007
286
Evaluation of autism traits in Angelman syndrome: a resource to unfold autism genes. ( 17415598 )
2007
287
Molecular epigenetics of Angelman syndrome. ( 17347796 )
2007
288
Screening of Prader-Willi syndrome and Angelman syndrome in school children with moderate to profound mental retardation in southern Taiwan. ( 17626606 )
2007
289
Angelman syndrome caused by an identical familial 1,487-kb deletion. ( 17152063 )
2007
290
Genomic imprinting and the expression of affect in Angelman syndrome: what's in the smile? ( 17537073 )
2007
291
Genetic engineering cures mice of neurological deficits: prospects for treating Angelman syndrome. ( 17559342 )
2007
292
Lamotrigine effect on GABA transmission in Angelman syndrome? ( 17692055 )
2007
293
Detection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairment. ( 17268193 )
2007
294
Unraveling the mechanisms of Angelman Syndrome. ( 17318219 )
2007
295
Angelman syndrome revisited. ( 17848870 )
2007
296
Bone mineral density in angelman syndrome. ( 18021922 )
2007
297
C15orf2 and a novel noncoding transcript from the Prader- Willi/Angelman syndrome region show monoallelic expression in fetal brain. ( 17337158 )
2007
298
Prevalence of Angelman syndrome amongst referrals with epilepsy and developmental delay. ( 17676602 )
2007
299
Angelman syndrome and hypothyroidism - coincidence or unique correlation? ( 17984955 )
2007
300
Unique retrotransposon LINE-1 distribution at the Prader-Willi Angelman syndrome locus. ( 17932619 )
2007
301
Robust, easy, and dose-sensitive methylation test for the diagnosis of Prader-Willi and Angelman syndromes. ( 17020468 )
2006
302
Psychological consequences of prenatal diagnosis in a case of familial Angelman syndrome. ( 17009341 )
2006
303
Prevalence of Angelman syndrome and Prader-Willi syndrome in Estonian children: sister syndromes not equally represented. ( 16906556 )
2006
304
Effects of social stimuli on laughing and smiling in young children with Angelman syndrome. ( 17029501 )
2006
305
Environmental influences on the behavioral phenotype of Angelman syndrome. ( 16968140 )
2006
306
Sensory processing patterns in persons with Angelman syndrome. ( 16915878 )
2006
307
Preferences in individuals with Angelman syndrome assessed by a modified Choice Assessment Scale. ( 16316430 )
2006
308
Detection of a deletion of exons 8-16 of the UBE3A gene in familial Angelman syndrome using a semi-quantitative dosage PCR based assay. ( 16740422 )
2006
309
The behavioural phenotype of Angelman syndrome. ( 16316429 )
2006
310
A long-term population-based clinical and morbidity profile of Angelman syndrome in Western Australia: 1953-2003. ( 16492624 )
2006
311
Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations. ( 16183798 )
2006
312
Epilepsy in patients with angelman syndrome caused by deletion of the chromosome 15q11-13. ( 16401744 )
2006
313
A human imprinting centre demonstrates conserved acquisition but diverged maintenance of imprinting in a mouse model for Angelman syndrome imprinting defects. ( 16368707 )
2006
314
Quantitative analysis of SNRPN(correction of SRNPN) gene methylation by pyrosequencing as a diagnostic test for Prader-Willi syndrome and Angelman syndrome. ( 16574761 )
2006
315
Atypical cases of Angelman syndrome. ( 17036311 )
2006
316
Mouse imprinting defect mutations that model Angelman syndrome. ( 16397868 )
2006
317
Germline mosaicism of a novel UBE3A mutation in Angelman syndrome. ( 16100729 )
2005
318
Sleep disturbances in Ube3a maternal-deficient mice modeling Angelman syndrome. ( 15921919 )
2005
319
Pharmacologic evidence for abnormal thalamocortical functioning in GABA receptor beta3 subunit-deficient mice, a model of Angelman syndrome. ( 16393151 )
2005
320
Uniparental disomy and imprinting defects in Japanese patients with Angelman syndrome. ( 16023557 )
2005
321
Electroclinical characteristics of seizures-comparing Prader--Willi syndrome with Angelman syndrome. ( 15668048 )
2005
322
Notched delta, phenotype, and Angelman syndrome. ( 16093895 )
2005
323
Sleep breathing and periodic leg movement pattern in Angelman Syndrome: a polysomnographic study. ( 16213786 )
2005
324
Increased prevalence of imprinting defects in patients with Angelman syndrome born to subfertile couples. ( 15805153 )
2005
325
Atypical absences and recurrent absence status in an adult with Angelman syndrome due to the UBE3A mutation. ( 16162432 )
2005
326
Analysis of the characteristics of epilepsy in 37 patients with the molecular diagnosis of Angelman syndrome. ( 15741136 )
2005
327
Evolution of seizures and electroencephalographical findings in 23 cases of deletion type Angelman syndrome. ( 15963670 )
2005
328
Microarray analysis of gene/transcript expression in Angelman syndrome: deletion versus UPD. ( 15607424 )
2005
329
Relationship between severity of epilepsy and developmental outcome in Angelman syndrome. ( 15668047 )
2005
330
Novel paternally expressed intergenic transcripts at the mouse Prader-Willi/Angelman Syndrome locus. ( 15965783 )
2005
331
A female with Angelman syndrome and unusual limb deformities. ( 15876517 )
2005
332
Angelman syndrome: is there a characteristic EEG? ( 15668045 )
2005
333
Behavioral aspects of Angelman syndrome: a case control study. ( 15578589 )
2005
334
Neurological aspects of the Angelman syndrome. ( 15668046 )
2005
335
Fast cerebellar oscillation associated with ataxia in a mouse model of Angelman syndrome. ( 15590147 )
2005
336
Narrowed abrogation of the Angelman syndrome critical interval on human chromosome 15 does not interfere with epigenotype maintenance in somatic cells. ( 15744456 )
2005
337
Angelman syndrome: uniparental paternal disomy 15 determines mild epilepsy, but has no influence on EEG patterns. ( 16226874 )
2005
338
Angelman syndrome: need for further illumination in the theater of the happy puppet. ( 16372055 )
2005
339
Strategies for preimplantation genetic diagnosis of Angelman syndrome caused by mutations in the UBE3A gene. ( 15901461 )
2005
340
Asystole during outbursts of laughing in a child with Angelman syndrome. ( 16132273 )
2005
341
Sleep in individuals with Angelman syndrome: parent perceptions of patterns and problems. ( 15941362 )
2005
342
A paternally inherited duplication in the Prader-Willi/Angelman syndrome critical region: a case and family study. ( 15796127 )
2005
343
Investigation of UBE3A and MECP2 in Angelman syndrome (AS) and patients with features of AS. ( 14981718 )
2004
344
Communicative functioning in individuals with Angelman syndrome: a comparative study. ( 15513724 )
2004
345
UBE3A gene mutations in Finnish Angelman syndrome patients detected by conformation sensitive gel electrophoresis. ( 15054837 )
2004
346
Somatic mosaicism in patients with Angelman syndrome and an imprinting defect. ( 15385437 )
2004
347
Just how happy is the happy puppet? An emotion signaling and kinship theory perspective on the behavioral phenotype of children with Angelman syndrome. ( 15288352 )
2004
348
Sleep polygraphy in Angelman syndrome. ( 15003776 )
2004
349
Angelman syndrome as a rare anaesthetic problem. ( 14996273 )
2004
350
A familial balanced inverted insertion ins(15)(q15q13q11.2) producing Prader-Willi syndrome, Angelman syndrome and duplication of 15q11.2-q13 in a single family: Importance of differentiation from a paracentric inversion. ( 15039970 )
2004
351
Angelman syndrome. ( 23377257 )
2004
352
Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects. ( 15470370 )
2004
353
SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome. ( 15014980 )
2004
354
Sleep problems in individuals with Angelman syndrome. ( 15176919 )
2004
355
Toxic hepatitis in a case of Angelman syndrome associated with Lennox-Gastaut syndrome. ( 15517829 )
2004
356
Motor impairments, neurological signs, and developmental level in individuals with Angelman syndrome. ( 15077701 )
2004
357
Autism in Angelman syndrome: implications for autism research. ( 15521981 )
2004
358
Autism in Angelman syndrome: an exploration of comorbidity. ( 15165432 )
2004
359
Deletion analysis of the imprinting center region in patients with Angelman syndrome and Prader-Willi syndrome by real-time quantitative PCR. ( 15684868 )
2004
360
Sleep disturbances in Angelman syndrome: a questionnaire study. ( 15130689 )
2004
361
From electrophysiology to chromatin: a bottom-up approach to Angelman syndrome. ( 15659843 )
2004
362
Cognitive and adaptive behavior profiles of children with Angelman syndrome. ( 15213998 )
2004
363
Girl with monosomy 1p36 and Angelman syndrome due to unbalanced der(1) transmission of a maternal translocation t(1;15)(p36.3;q13.1). ( 15384094 )
2004
364
Biochemical analysis of Angelman syndrome-associated mutations in the E3 ubiquitin ligase E6-associated protein. ( 15263005 )
2004
365
Thelarche variant in a girl with Angelman syndrome. ( 15165676 )
2004
366
Postural rhythmic muscle bursting activity in Angelman syndrome. ( 15275702 )
2004
367
Another case of imprinting defect in a girl with Angelman syndrome who was conceived by intracytoplasmic semen injection. ( 12549484 )
2003
368
Gene symbol: UBE3A. Disease: Angelman syndrome. ( 12974277 )
2003
369
Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions. ( 12668608 )
2003
370
A quantitative polymerase chain reaction method for determining copy number within the Prader-Willi/Angelman syndrome critical region. ( 12791044 )
2003
371
Angelman syndrome: a review of the clinical and genetic aspects. ( 12566516 )
2003
372
Mouse models of Angelman syndrome, a neurodevelopmental disorder, display different brain regional GABA(A) receptor alterations. ( 12672542 )
2003
373
Reserpine responsive myoclonus and hyperpyrexia in a patient with Angelman syndrome. ( 12860512 )
2003
374
Case report: Angelman syndrome in an individual with a small SMC(15) and paternal uniparental disomy: a case report with reference to the assessment of cognitive functioning and autistic symptomatology. ( 12757356 )
2003
375
A supernumerary marker chromosome 15 tetrasomic for the Prader-Willi/Angelman syndrome critical region in a patient with a severe phenotype. ( 12843333 )
2003
376
Retinochoroidal atrophy in two adult patients with Angelman syndrome. ( 12955768 )
2003
377
Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene. ( 12749060 )
2003
378
Problems in detecting mosaic DNA methylation in Angelman syndrome. ( 14523374 )
2003
379
Angelman syndrome reviewed from a neurophysiological perspective. The UBE3A-GABRB3 hypothesis. ( 12973656 )
2003
380
Clinical, cytogenetical and molecular analyses of Angelman syndrome. ( 12725589 )
2003
381
Angelman syndrome: etiology, clinical features, diagnosis, and management of symptoms. ( 14510623 )
2003
382
Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons. ( 14508708 )
2003
383
Angelman syndrome: difficulties in EEG pattern recognition and possible misinterpretations. ( 12887436 )
2003
384
Familial interstitial 570 kbp deletion of the UBE3A gene region causing Angelman syndrome but not Prader-Willi syndrome. ( 12210318 )
2002
385
A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect. ( 12563398 )
2002
386
Diagnostic testing for Prader-Willi syndrome and Angelman syndrome: a cost comparison. ( 12509717 )
2002
387
Angelman syndrome methylation screening of 15q11-q13 in institutionalized individuals with severe mental retardation. ( 12215253 )
2002
388
Use of two FISH probes provides a cost-effective, simple protocol to exclude an imprinting centre defect in routine laboratory testing for suspected Prader-Willi and Angelman syndrome. ( 12668166 )
2002
389
Effects of environmental events on smiling and laughing behavior in Angelman syndrome. ( 11966332 )
2002
390
The Prader-Willi syndrome and the Angelman syndrome. ( 12558108 )
2002
391
Drowning as a cause of death in Angelman syndrome. ( 11806751 )
2002
392
A patient with a supernumerary marker chromosome (15), Angelman syndrome, and uniparental disomy resulting from paternal meiosis II non-disjunction. ( 11836378 )
2002
393
Severe phenotype in Angelman syndrome resulting from paternal isochromosome 15. ( 11836373 )
2002
394
Adjunct diagnostic test for Angelman syndrome: the tuning fork response. ( 12376950 )
2002
395
Communication profiles of individuals with Down's syndrome, Angelman syndrome and pervasive developmental disorder. ( 11851854 )
2002
396
Identification of tandemly-repeated C/D snoRNA genes at the imprinted human 14q32 domain reminiscent of those at the Prader-Willi/Angelman syndrome region. ( 12045206 )
2002
397
Adjunct diagnostic test for Angelman syndrome: the tuning fork response. ( 11977186 )
2002
398
Exceptionally mild Angelman syndrome phenotype associated with an incomplete imprinting defect. ( 12205121 )
2002
399
Referral diagnosis of Prader-Willi syndrome and Angelman syndrome based on methylation-specific polymerase chain reaction. ( 12353341 )
2002
400
No evidence for submicroscopic 22qter deletions in patients with features suggestive for Angelman syndrome. ( 11977159 )
2002
401
Split-cord malformation in a girl with Angelman syndrome: a mere coincidence? ( 12124736 )
2002
402
Efficacy of different antiepileptic drugs in children with Angelman syndrome associated with 15q11-13 deletion: the Danish experience. ( 11665831 )
2001
403
Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein. ( 11283202 )
2001
404
Fertility in Prader-Willi syndrome: a case report with Angelman syndrome in the offspring. ( 11332942 )
2001
405
High-dose ethosuximide for epilepsy in Angelman syndrome: implication of GABA(A) receptor subunit. ( 11673606 )
2001
406
Distinct multi-joint control strategies in spastic diplegia associated with prematurity or Angelman syndrome. ( 11514244 )
2001
407
Levodopa responsive Parkinsonism in adults with Angelman Syndrome. ( 11535008 )
2001
408
Late-treated phenylketonuria mimicking Angelman syndrome. ( 11754074 )
2001
409
Distinct phenotypes distinguish the molecular classes of Angelman syndrome. ( 11748306 )
2001
410
Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families. ( 11543639 )
2001
411
Angelman syndrome: mimicking conditions and phenotypes. ( 11343340 )
2001
412
Disruption of the bipartite imprinting center in a family with Angelman syndrome. ( 11283796 )
2001
413
Decreased binding of [11C]flumazenil in Angelman syndrome patients with GABA(A) receptor beta3 subunit deletions. ( 11198279 )
2001
414
A novel maternally expressed gene, ATP10C, encodes a putative aminophospholipid translocase associated with Angelman syndrome. ( 11326269 )
2001
415
Levels of cognitive and linguistic development in Angelman syndrome: a study of 20 children. ( 11432411 )
2001
416
Fluorescence in situ hybridization detectable mosaicism for Angelman syndrome with biparental methylation. ( 11078565 )
2000
417
A further Angelman syndrome patient with UPD15 due to paternal meiosis II nondisjunction. ( 10733242 )
2000
418
Atypical features in Angelman syndrome due to imprinting defect of uniparental disomy of chromosome 15. ( 10832589 )
2000
419
Problem behaviors associated with 15q- Angelman syndrome. ( 10683706 )
2000
420
Genetics of childhood disorders: XVI. Angelman syndrome: a failure to process. ( 10892237 )
2000
421
Origin of uniparental disomy 15 in patients with Prader-Willi or Angelman syndrome. ( 10995513 )
2000
422
Automatico-voluntary dissociation in Angelman syndrome. ( 10819698 )
2000
423
Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome. ( 10905897 )
2000
424
Novel mutations of ubiquitin protein ligase 3A gene in Italian patients with Angelman syndrome. ( 10737998 )
2000
425
Ophthalmic manifestations of Angelman syndrome. ( 10951304 )
2000
426
The imprinting box of the Prader-Willi/Angelman syndrome domain. ( 11101841 )
2000
427
Angelman syndrome in three adult patients with atypical presentation and severe neurological complications. ( 11140414 )
2000
428
Phenotype in patients with Angelman syndrome. ( 10854104 )
2000
429
An unexpected recurrence of Angelman syndrome suggestive of maternal germ-line mosaicism of del(15)(q11q13) in a Finnish family. ( 10982040 )
2000
430
Identification of novel imprinted transcripts in the Prader-Willi syndrome and Angelman syndrome deletion region: further evidence for regional imprinting control. ( 10712201 )
2000
431
Investigation of a cryptic interstitial duplication involving the Prader-Willi/Angelman syndrome critical region. ( 10598802 )
1999
432
Parental imprinting and Angelman syndrome. ( 10514831 )
1999
433
Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling. ( 10424818 )
1999
434
Genetics of Angelman syndrome. ( 10364509 )
1999
435
Case of apparent Gurrieri syndrome showing molecular findings of Angelman syndrome. ( 9916855 )
1999
436
Angelman syndrome with uniparental disomy due to paternal meiosis II nondisjunction. ( 10450868 )
1999
437
Angelman syndrome: a review of clinical and genetic aspects. ( 10536901 )
1999
438
Transmission of Angelman syndrome by an affected mother. ( 11258627 )
1999
439
Phenotype-genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients. ( 10196695 )
1999
440
A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp. ( 10647904 )
1999
441
Distinctive pattern of behavioral functioning in Angelman syndrome. ( 10450464 )
1999
442
The spectrum of mutations in UBE3A causing Angelman syndrome. ( 9887341 )
1999
443
Effects of a low dose of melatonin on sleep in children with Angelman syndrome. ( 10392349 )
1999
444
Confirmation of Angelman syndrome in a boy previously reported as having Becker muscular dystrophy and severe mental retardation. ( 10592081 )
1999
445
GABA and epileptogenesis: comparing gabrb3 gene-deficient mice with Angelman syndrome in man. ( 10515160 )
1999
446
Screening for UBE3A gene mutations in a group of Angelman syndrome patients selected according to non-stringent clinical criteria. ( 10647895 )
1999
447
EEG--a valuable tool in early diagnosis of Angelman syndrome. ( 10927959 )
1999
448
Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints. ( 10417280 )
1999
449
Visual evoked potential evidence of albino-like chiasmal misrouting in a patient with Angelman syndrome with no ocular features of albinism. ( 10503922 )
1999
450
Diagnosis of Angelman syndrome: clinical and EEG criteria. ( 10413015 )
1999
451
Angelman syndrome: AS phenotype correlated with specific EEG pattern may result in a high detection rate of mutations in the UBE3A gene. ( 10507736 )
1999
452
Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13). ( 10332034 )
1999
453
The Angelman syndrome-associated protein, E6-AP, is a coactivator for the nuclear hormone receptor superfamily. ( 9891052 )
1999
454
The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion. ( 9931342 )
1999
455
A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect. ( 10482951 )
1999
456
Molecular mechanism of angelman syndrome in two large families involves an imprinting mutation. ( 9973277 )
1999
457
Interstitial 4p deletion in a child with an Angelman syndrome-like phenotype. ( 10563486 )
1999
458
The human gene for the poly(A)-specific ribonuclease (PARN) maps to 16p13 and has a truncated copy in the Prader-Willi/Angelman syndrome region on 15q11-->q13. ( 10640832 )
1999
459
Psychosocial problems, coping strategies, and the need for information of parents of children with Prader-Willi syndrome and Angelman syndrome. ( 10865686 )
1999
460
Unexpected Angelman syndrome molecular defect in a girl displaying clinical features of Prader-Willi syndrome. ( 10465123 )
1999
461
Clinical characteristics of Angelman syndrome patients with a non-IC-deleted imprinting mutation. ( 10361990 )
1999
462
Expressed copies of the MN7 (D15F37) gene family map close to the common deletion breakpoints in the Prader-Willi/Angelman syndromes. ( 9730612 )
1998
463
Atypical molecular findings identify limits of technical screening tests for Prader-Willi and Angelman syndrome diagnoses. ( 9677058 )
1998
464
Imprinting in Prader-Willi and Angelman syndromes. ( 9613204 )
1998
465
Angelman syndrome: are the estimates too low? ( 9856568 )
1998
466
Mice lacking the beta3 subunit of the GABAA receptor have the epilepsy phenotype and many of the behavioral characteristics of Angelman syndrome. ( 9763493 )
1998
467
Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis. ( 9634532 )
1998
468
Prenatal diagnosis and carrier detection for a point mutation in UBE3A causing Angelman syndrome. ( 9792887 )
1998
469
Angelman syndrome: correlations between epilepsy phenotypes and genotypes. ( 9546330 )
1998
470
UBE3A "mutations" in two unrelated and phenotypically different Angelman syndrome patients. ( 9600250 )
1998
471
Mutation analysis of UBE3A in Angelman syndrome patients. ( 9585605 )
1998
472
Unusual clinical features in an Angelman syndrome patient with uniparental disomy due to a translocation 15q15q. ( 9831341 )
1998
473
Parental view of epilepsy in Angelman syndrome: a questionnaire study. ( 10193256 )
1998
474
Rett syndrome: significant clinical overlap with Angelman syndrome but not with methylation status. ( 9733292 )
1998
475
Methylenetetrahydrofolate reductase deficiency in a patient with phenotypic findings of Angelman syndrome. ( 9605586 )
1998
476
A rapid, PCR based test for differential molecular diagnosis of Prader-Willi and Angelman syndromes. ( 9643288 )
1998
477
Angelman syndrome: how many genes to remain silent? ( 10732796 )
1998
478
Angelman syndrome without detectable chromosome 15q11-13 anomaly: clinical study of familial and isolated cases. ( 9508247 )
1998
479
Adverse effects of vigabatrin in Angelman syndrome. ( 9821987 )
1998
480
Normal growth in Angelman syndrome due to paternal UPD. ( 9630080 )
1998
481
Genetic counseling in Angelman syndrome: gonadal mosaicism. ( 9714017 )
1998
482
Prader-Willi and Angelman syndromes. Disorders of genomic imprinting. ( 9556704 )
1998
483
Genetic counseling in Angelman syndrome: the challenges of multiple causes. ( 9557895 )
1998
484
Potential pitfall in Prader-Willi syndrome and Angelman syndrome molecular diagnosis. ( 9880230 )
1998
485
Methylation PCR analysis of Prader-Willi syndrome, Angelman syndrome, and control subjects. ( 9843050 )
1998
486
Prader-Willi and Angelman syndromes: diagnosis with a bisulfite-treated methylation-specific PCR method. ( 9415690 )
1997
487
Genotype and phenotype in Angelman syndrome caused by paternal UPD 15. ( 9188675 )
1997
488
Fishing out the Angelman syndrome gene. ( 9055853 )
1997
489
Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy. ( 9152844 )
1997
490
Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3. ( 9042916 )
1997
491
Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain. ( 9288087 )
1997
492
A candidate model for Angelman syndrome in the mouse. ( 9195990 )
1997
493
UBE3A/E6-AP mutations cause Angelman syndrome. ( 8988171 )
1997
494
Imprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method. ( 9147641 )
1997
495
Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families. ( 9279757 )
1997
496
Angelman syndrome caused by loss of a marker chromosome: cytogenetic and fluorescence in situ hybridization analysis. ( 9460799 )
1997
497
Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome. ( 9245988 )
1997
498
The elusive Angelman syndrome critical region. ( 9321755 )
1997
499
The E6-Ap ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region. ( 9110176 )
1997
500
Manifestations in institutionalised adults with Angelman syndrome due to deletion. ( 9182785 )
1997
501
The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain. ( 9288088 )
1997
502
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. ( 8988172 )
1997
503
Genomic imprinting: potential function and mechanisms revealed by the Prader-Willi and Angelman syndromes. ( 9237260 )
1997
504
Angelman syndrome assessed by neurological and molecular cytogenetic investigations. ( 9044396 )
1997
505
Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons. ( 9288101 )
1997
506
Elevated plasma gamma-aminobutyric acid (GABA) levels in individuals with either Prader-Willi syndrome or Angelman syndrome. ( 9017532 )
1997
507
Evolution of epilepsy and EEG findings in Angelman syndrome. ( 9048672 )
1997
508
Unexpected familial recurrence in Angelman syndrome. ( 9188662 )
1997
509
A case of Angelman syndrome arising as a result of a de novo Robertsonian translocation. ( 8872042 )
1996
510
Molecular analysis of an extra inv dup(15)(q13) chromosome in two patients with Angelman syndrome. ( 8872034 )
1996
511
Phenotypic differences in Angelman syndrome patients: imprinting mutations show less frequently microcephaly and hypopigmentation than deletions. ( 8958335 )
1996
512
Angelman syndrome in an inbred family. ( 8786067 )
1996
513
Angelman syndrome in adulthood. ( 9072912 )
1996
514
An Angelman syndrome clinic: report on 24 patients. ( 8860380 )
1996
515
Genes for Prader Willi syndrome/Angelman syndrome and fragile X syndrome are homologous, with genetic imprinting and unstable trinucleotide repeats causing mental retardation, autism and aggression. ( 8910878 )
1996
516
Familial cryptic translocation resulting in Angelman syndrome:implications for imprinting or location of the Angelman gene? ( 8644742 )
1996
517
Robertsonian (15q;15q) translocation in a child with Angelman syndrome: evidence of uniparental disomy. ( 8989460 )
1996
518
Detection of imprinting mutations in Angelman syndrome using a probe for exon alpha of SNRPN. ( 8725798 )
1996
519
Autism in Angelman syndrome: a population-based study. ( 8703225 )
1996
520
Unilateral cleft lip in a boy with Angelman syndrome. ( 8773903 )
1996
521
Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome. ( 8933339 )
1996
522
Decrease in benzodiazepine receptor binding in a patient with Angelman syndrome detected by iodine-123 iomazenil and single-photon emission tomography. ( 8698070 )
1996
523
Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion. ( 8929945 )
1996
524
Angelman syndrome. ( 8521718 )
1995
525
Supernumerary inv dup(15) in a patient with Angelman syndrome and a deletion of 15q11-q13. ( 7645601 )
1995
526
FISH analysis in Prader-Willi and Angelman syndrome patients. ( 7625450 )
1995
527
Deletion involving D15S113 in a mother and son without Angelman syndrome: refinement of the Angelman syndrome critical deletion region. ( 7702085 )
1995
528
High resolution chromosome analysis and fluorescence in situ hybridization in patients referred for Prader-Willi or Angelman syndrome. ( 7604853 )
1995
529
Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients. ( 7611294 )
1995
530
Behaviour problems in Angelman syndrome. ( 7787388 )
1995
531
Prenatal diagnosis of chromosome 15 abnormalities in the Prader-Willi/Angelman syndrome region by traditional and molecular cytogenetics. ( 7762584 )
1995
532
Sex-specific meiotic recombination in the Prader--Willi/Angelman syndrome imprinted region. ( 7633438 )
1995
533
Angelman syndrome: validation of molecular cytogenetic analysis of chromosome 15q11-q13 for deletion detection. ( 7747771 )
1995
534
Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: estimated prevalence rate in a Danish county. ( 7573182 )
1995
535
Clinical profile of Angelman syndrome at different ages. ( 7625442 )
1995
536
On the prevalence of Angelman syndrome. ( 8599374 )
1995
537
Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation. ( 7625452 )
1995
538
DNA methylation pattern in Angelman syndrome. ( 8655072 )
1995
539
Electroclinical diagnosis of Angelman syndrome: a study of 7 cases. ( 7762767 )
1995
540
Angelman syndrome at an older age. ( 7677166 )
1995
541
Further patient with Angelman syndrome due to paternal disomy of chromosome 15 and a milder phenotype. ( 7778602 )
1995
542
Recombination model for generation of a submicroscopic deletion in familial Angelman syndrome. ( 8162058 )
1994
543
Familial unbalanced translocation t(8;15)(p23.3;q11) with uniparental disomy in Angelman syndrome. ( 8168819 )
1994
544
The critical region for Angelman syndrome lies between D15S122 and D15S113. ( 7864058 )
1994
545
Angelman syndrome due to paternal uniparental disomy of chromosome 15: a milder phenotype? ( 8030667 )
1994
546
Physical mapping studies at D15S10: implications for candidate gene identification in the Angelman syndrome/Prader-Willi syndrome chromosome region of 15q11-q13. ( 8188222 )
1994
547
Precocious puberty in a case with probable Angelman syndrome. ( 7943614 )
1994
548
Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: clinical implications. ( 8178816 )
1994
549
Angelman syndrome associated with a maternal 15q11-13 deletion of less than 200 kb. ( 7987324 )
1994
550
Comparison of high resolution chromosome banding and fluorescence in situ hybridization (FISH) for the laboratory evaluation of Prader-Willi syndrome and Angelman syndrome. ( 7977469 )
1994
551
Angelman syndrome in three siblings: genetic model of epilepsy associated with chromosomal DNA deletion of the GABAA receptor. ( 7807743 )
1994
552
The mouse pink-eyed dilution gene: association with hypopigmentation in Prader-Willi and Angelman syndromes and with human OCA2. ( 7761348 )
1994
553
Angelman syndrome and vermian cyst. ( 7802023 )
1994
554
Familial Angelman syndrome with a crossover in the critical deletion region. ( 7810569 )
1994
555
Molecular and clinical study of 61 Angelman syndrome patients. ( 7802001 )
1994
556
Two Prader-Willi/Angelman syndrome loci present in an isodicentric marker chromosome. ( 7521122 )
1994
557
Clinical research on Angelman syndrome in the United Kingdom: observations on 82 affected individuals. ( 7684188 )
1993
558
Molecular study of chromosome 15 in 22 patients with Angelman syndrome. ( 8094063 )
1993
559
Angelman Syndrome ( 20301323 )
1993
560
Inheritance of parental chromosomes 15 in Angelman syndrome--implications for the family. ( 8471216 )
1993
561
Linkage analysis in familial Angelman syndrome. ( 8317476 )
1993
562
Angelman syndrome. ( 8376719 )
1993
563
Communication, cognition, and social interaction in the Angelman syndrome. ( 8494032 )
1993
564
Angelman syndrome. ( 8461912 )
1993
565
Molecular mechanisms in Angelman syndrome: a survey of 93 patients. ( 7905534 )
1993
566
Difference in methylation patterns within the D15S9 region of chromosome 15q11-13 in first cousins with Angelman syndrome and Prader-Willi syndrome. ( 8266996 )
1993
567
High-resolution mapping of the gamma-aminobutyric acid receptor subunit beta 3 and alpha 5 gene cluster on chromosome 15q11-q13, and localization of breakpoints in two Angelman syndrome patients. ( 8389098 )
1993
568
Mental retardation, ataxia, seizures, dysmorphia, and hydrocephaly in two sibs. Angelman syndrome or new syndrome. ( 8357566 )
1993
569
Characterization of a DNA sequence family in the Prader-Willi/Angelman syndrome chromosome region in 15q11-q13. ( 8486372 )
1993
570
Papers presented at the 2nd North American Conference on Angelman Syndrome. Orlando, Florida, August 1-4, 1991. ( 8098582 )
1993
571
Regional cerebral blood flow in Angelman syndrome. ( 8370386 )
1993
572
Novel patterns of inheritance of genetic disease are illustrated by the Angelman syndrome. ( 8326891 )
1993
573
Paternal uniparental disomy in a child with a balanced 15;15 translocation and Angelman syndrome. ( 8456836 )
1993
574
Cloning of the breakpoints of a submicroscopic deletion in an Angelman syndrome patient. ( 8364575 )
1993
575
Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome. ( 8326502 )
1993
576
Cytogenetic and molecular analysis in Angelman syndrome. ( 8098583 )
1993
577
[The GABAA receptor beta 3-subunit gene (GABRB3) as a candidate responsible for central nerve disturbances in Angelman syndrome (AS)]. ( 8411721 )
1993
578
Hypopigmentation in Angelman syndrome. ( 8494033 )
1993
579
Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis. ( 1363801 )
1992
580
Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome. ( 1362220 )
1992
581
Familial Angelman syndrome caused by imprinted submicroscopic deletion encompassing GABAA receptor beta 3-subunit gene. ( 1346439 )
1992
582
Angelman syndrome in three siblings: characteristic epileptic seizures and EEG abnormalities. ( 1464267 )
1992
583
Angelman syndrome. ( 1619637 )
1992
584
A genetic model for the Prader-Willi syndrome and its implication for Angelman syndrome. ( 1427794 )
1992
585
A putative gene family in 15q11-13 and 16p11.2: possible implications for Prader-Willi and Angelman syndromes. ( 1608955 )
1992
586
Deletion of 15q12 in Angelman syndrome: report of 3 new cases. ( 1486699 )
1992
587
Angelman syndrome: clinical profile. ( 1634750 )
1992
588
Maternal but not paternal transmission of 15q11-13-linked nondeletion Angelman syndrome leads to phenotypic expression. ( 1338769 )
1992
589
Paternal uniparental disomy of chromosome 15 in a child with Angelman syndrome. ( 1360787 )
1992
590
Angelman syndrome with a chromosomal inversion 15 inv(p11q13) accompanied by a deletion in 15q11q13. ( 1362225 )
1992
591
Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15. ( 1538725 )
1992
592
A combined behavioral/pharmacological treatment of sleep-wake schedule disorder in Angelman syndrome. ( 1506469 )
1992
593
The mouse pink-eyed dilution gene: association with human Prader- Willi and Angelman syndromes. ( 1509264 )
1992
594
Prader-Willi or Angelman syndrome in familial 15q11----q13 deletion of maternal origin? ( 1733842 )
1992
595
Further evidence for dominant inheritance at the chromosome 15q11-13 locus in familial Angelman syndrome. ( 1360768 )
1992
596
The mouse pink-eyed dilution locus: a model for aspects of Prader-Willi syndrome, Angelman syndrome, and a form of hypomelanosis of Ito. ( 1611213 )
1992
597
Epilepsy in Angelman syndrome associated with chromosome 15q deletion. ( 1464268 )
1992
598
Maternal origin of deletion 15q11-13 in 25/25 cases of Angelman syndrome. ( 1740313 )
1992
599
Chromosome 15 uniparental disomy is not frequent in Angelman syndrome. ( 1985457 )
1991
600
Chromosome 15 uniparental disomy is not frequent in Angelman syndrome. ( 1867202 )
1991
601
Diagnosis of Angelman syndrome in infants. ( 2012134 )
1991
602
On the genetic imprinting suggested in Angelman syndrome. ( 1877632 )
1991
603
Alpha-fetoprotein in Angelman syndrome. ( 1707838 )
1991
604
DNA deletion and its parental origin in Angelman syndrome patients. ( 1683160 )
1991
605
Angelman syndrome: three molecular classes identified with chromosome 15q11q13-specific DNA markers. ( 1971993 )
1990
606
Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting. ( 2309781 )
1990
607
Cytogenetic and molecular study of Angelman syndrome. ( 2309778 )
1990
608
Partial expression of Angelman syndrome in mother most likely to be due to mosaicism involving both somatic and germline cells. ( 2363443 )
1990
609
Detection of a 15q deletion in a child with Angelman syndrome by cytogenetic analysis and flow cytometry. ( 2774001 )
1989
610
On the parental origin of the deletion in Angelman syndrome. ( 2777263 )
1989
611
Incidence of 15q deletions in the Angelman syndrome: a survey of twelve affected persons. ( 2786338 )
1989
612
Angelman syndrome in a daughter with del(15) (q11q13) associated with brachycephaly, hearing loss, enlarged foramen magnum, and ataxia in the mother. ( 2729353 )
1989
613
Is Angelman syndrome an alternate result of del(15)(q11q13)? ( 3688021 )
1987
614
The Angelman syndrome in two brothers. ( 7180875 )
1982

Variations for Angelman Syndrome

ClinVar genetic disease variations for Angelman Syndrome:

6 (showing 144, show less)
id Gene Variation Type Significance SNP ID Assembly Location
1 UBE3A UBE3A, 5-BP DUP duplication Pathogenic
2 UBE3A UBE3A, IVS9, A-G, -8 single nucleotide variant Pathogenic
3 UBE3A UBE3A, 2-BP DEL, 1344GT deletion Pathogenic
4 UBE3A NM_130838.1(UBE3A): c.1249C> T (p.Arg417Ter) single nucleotide variant Pathogenic rs111033594 GRCh37 Chromosome 15, 25616012: 25616012
5 UBE3A NM_130838.1(UBE3A): c.2304G> A (p.Trp768Ter) single nucleotide variant Pathogenic rs111033595 GRCh37 Chromosome 15, 25585366: 25585366
6 UBE3A NM_130838.1(UBE3A): c.316A> C (p.Thr106Pro) single nucleotide variant Pathogenic rs111033596 GRCh37 Chromosome 15, 25616945: 25616945
7 UBE3A NM_130838.1(UBE3A): c.389T> C (p.Ile130Thr) single nucleotide variant Pathogenic rs111033597 GRCh37 Chromosome 15, 25616872: 25616872
8 UBE3A UBE3A, 4-BP DEL, 3093AAGA deletion Pathogenic
9 UBE3A UBE3A, 2-BP DEL, 1930AG deletion Pathogenic
10 UBE3A UBE3A, 4-BP DUP, EX10, GAGG duplication Pathogenic
11 MECP2 NM_004992.3(MECP2): c.473C> T (p.Thr158Met) single nucleotide variant Pathogenic/Likely pathogenic rs28934906 GRCh37 Chromosome X, 153296806: 153296806
12 MECP2 NM_004992.3(MECP2): c.808C> T (p.Arg270Ter) single nucleotide variant Pathogenic rs61750240 GRCh37 Chromosome X, 153296471: 153296471
13 MECP2 NM_004992.3(MECP2): c.167_168delCC (p.Pro56Argfs) deletion Pathogenic rs267608434 GRCh37 Chromosome X, 153297867: 153297868
14 MECP2 NM_001110792.1(MECP2): c.916C> T (p.Arg306Ter) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs61751362 GRCh37 Chromosome X, 153296399: 153296399
15 MECP2 NM_004992.3(MECP2): c.916C> T (p.Arg306Cys) single nucleotide variant Pathogenic rs28935468 GRCh37 Chromosome X, 153296363: 153296363
16 MECP2 NM_004992.3(MECP2): c.423C> G (p.Tyr141Ter) single nucleotide variant Pathogenic rs61748396 GRCh37 Chromosome X, 153296856: 153296856
17 UBE3A UBE3A, 15-BP DEL/7-BP INS, NT3240 indel Pathogenic
18 MECP2 NM_004992.3(MECP2): c.806delG (p.Gly269Alafs) deletion Pathogenic rs61750241 GRCh37 Chromosome X, 153296473: 153296473
19 UBE3A NM_130838.1(UBE3A): c.1547_1548delGGinsTGCTAGACAA (p.Arg516Leufs) indel Pathogenic rs398124438 GRCh37 Chromosome 15, 25615713: 25615714
20 UBE3A NM_130838.1(UBE3A): c.2503_2506delCTTA (p.Leu835Lysfs) deletion Pathogenic rs398124440 GRCh37 Chromosome 15, 25584337: 25584340
21 UBE3A NM_130838.1(UBE3A): c.275dupA (p.Lys93Glufs) duplication Pathogenic rs587780568 GRCh37 Chromosome 15, 25620638: 25620638
22 UBE3A NM_130838.1(UBE3A): c.277_280delAAAG (p.Lys93Alafs) deletion Pathogenic rs587780569 GRCh38 Chromosome 15, 25375486: 25375489
23 UBE3A NM_130838.1(UBE3A): c.99delC (p.Cys34Valfs) deletion Pathogenic rs587780565 GRCh38 Chromosome 15, 25375667: 25375667
24 UBE3A NM_130838.1(UBE3A): c.199_202dupAAAG (p.Gly68Glufs) duplication Pathogenic rs587780566 GRCh38 Chromosome 15, 25375564: 25375567
25 UBE3A NM_130838.1(UBE3A): c.263_264delTA (p.Ile88Lysfs) deletion Pathogenic rs587780567 GRCh38 Chromosome 15, 25375502: 25375503
26 UBE3A NM_130838.1(UBE3A): c.312_315delCTTA (p.Tyr104Terfs) deletion Pathogenic rs587780570 GRCh38 Chromosome 15, 25371799: 25371802
27 UBE3A NM_130838.1(UBE3A): c.362_363delAG (p.Glu121Glyfs) deletion Pathogenic rs587780571 GRCh38 Chromosome 15, 25371751: 25371752
28 UBE3A NM_130838.1(UBE3A): c.403dupT (p.Ser135Phefs) duplication Pathogenic rs587780572 GRCh38 Chromosome 15, 25371711: 25371711
29 UBE3A NM_130838.1(UBE3A): c.547delG (p.Asp183Thrfs) deletion Pathogenic rs587780573 GRCh37 Chromosome 15, 25616714: 25616714
30 UBE3A NM_130838.1(UBE3A): c.580dupA (p.Ser194Lysfs) duplication Pathogenic rs587780574 GRCh38 Chromosome 15, 25371534: 25371534
31 UBE3A NM_130838.1(UBE3A): c.688G> T (p.Glu230Ter) single nucleotide variant Pathogenic rs587780575 GRCh38 Chromosome 15, 25371426: 25371426
32 UBE3A NM_130838.1(UBE3A): c.717T> A (p.Tyr239Ter) single nucleotide variant Pathogenic rs587780576 GRCh38 Chromosome 15, 25371397: 25371397
33 UBE3A NM_130838.1(UBE3A): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic/Likely pathogenic rs587780577 GRCh38 Chromosome 15, 25405461: 25405461
34 UBE3A NM_130838.1(UBE3A): c.302-2A> T single nucleotide variant Pathogenic rs587780578 GRCh38 Chromosome 15, 25371814: 25371814
35 UBE3A NM_130838.1(UBE3A): c.1694-2A> G single nucleotide variant Pathogenic rs587780579 GRCh38 Chromosome 15, 25356898: 25356898
36 UBE3A NM_130838.1(UBE3A): c.2065-2A> C single nucleotide variant Pathogenic rs587780580 GRCh38 Chromosome 15, 25354685: 25354685
37 UBE3A NM_130838.1(UBE3A): c.2558A> T (p.Ter853Leu) single nucleotide variant Pathogenic rs76794400 GRCh38 Chromosome 15, 25339138: 25339138
38 UBE3A NM_130838.1(UBE3A): c.635A> T (p.Asp212Val) single nucleotide variant Pathogenic rs587780581 GRCh38 Chromosome 15, 25371479: 25371479
39 UBE3A NM_130838.1(UBE3A): c.710T> C (p.Leu237Pro) single nucleotide variant Pathogenic rs587780582 GRCh38 Chromosome 15, 25371404: 25371404
40 UBE3A NM_130838.1(UBE3A): c.788T> G (p.Leu263Trp) single nucleotide variant Pathogenic rs587780583 GRCh38 Chromosome 15, 25371326: 25371326
41 UBE3A NM_130838.1(UBE3A): c.1373C> T (p.Pro458Leu) single nucleotide variant Pathogenic rs587780584 GRCh38 Chromosome 15, 25370741: 25370741
42 UBE3A NM_130838.1(UBE3A): c.1365_1379delGACATGTCCCTTTAT (p.Met455_Phe459del) deletion Pathogenic rs587780585 GRCh38 Chromosome 15, 25370735: 25370749
43 MECP2 NM_004992.3(MECP2): c.108_111delAGAA (p.Glu37Argfs) deletion Pathogenic rs267608426 GRCh37 Chromosome X, 153297924: 153297927
44 MECP2 NM_004992.3(MECP2): c.1157_1200del44 (p.Leu386Glnfs) deletion Pathogenic rs63749748 GRCh37 Chromosome X, 153296079: 153296122
45 MECP2 NM_004992.3(MECP2): c.674C> G (p.Pro225Arg) single nucleotide variant Pathogenic rs61749715 GRCh37 Chromosome X, 153296605: 153296605
46 CDKL5 NM_003159.2(CDKL5): c.902_903dupGA (p.Leu302Aspfs) duplication Pathogenic rs267608546 GRCh37 Chromosome X, 18616658: 18616659
47 UBE3A NM_130838.1(UBE3A): c.750T> A (p.Tyr250Ter) single nucleotide variant Pathogenic rs587781190 GRCh38 Chromosome 15, 25371364: 25371364
48 UBE3A NM_130838.1(UBE3A): c.961C> T (p.Gln321Ter) single nucleotide variant Pathogenic rs587781191 GRCh38 Chromosome 15, 25371153: 25371153
49 UBE3A NM_130838.1(UBE3A): c.972_978delTACTTAT (p.Thr325Lysfs) deletion Pathogenic rs587781192 GRCh38 Chromosome 15, 25371136: 25371142
50 UBE3A NM_130838.1(UBE3A): c.1067dupA (p.Tyr356Terfs) duplication Pathogenic rs587781193 GRCh38 Chromosome 15, 25371047: 25371047
51 UBE3A NM_130838.1(UBE3A): c.1076dupA (p.Asn359Lysfs) duplication Pathogenic rs587781194 GRCh38 Chromosome 15, 25371038: 25371038
52 UBE3A NM_130838.1(UBE3A): c.1114G> T (p.Glu372Ter) single nucleotide variant Pathogenic rs587781195 GRCh38 Chromosome 15, 25371000: 25371000
53 UBE3A NM_130838.1(UBE3A): c.1201C> T (p.Arg401Ter) single nucleotide variant Pathogenic rs587781196 GRCh38 Chromosome 15, 25370913: 25370913
54 UBE3A NM_130838.1(UBE3A): c.1270G> T (p.Glu424Ter) single nucleotide variant Pathogenic rs587781197 GRCh38 Chromosome 15, 25370844: 25370844
55 UBE3A NM_130838.1(UBE3A): c.1285G> T (p.Glu429Ter) single nucleotide variant Pathogenic rs587781198 GRCh38 Chromosome 15, 25370829: 25370829
56 UBE3A NM_130838.1(UBE3A): c.1355dupT (p.Ser453Leufs) duplication Pathogenic rs587781199 GRCh38 Chromosome 15, 25370759: 25370759
57 UBE3A NM_130838.1(UBE3A): c.1361_1362delTT (p.Phe454Tyrfs) deletion Pathogenic rs587781200 GRCh38 Chromosome 15, 25370752: 25370753
58 UBE3A NM_130838.1(UBE3A): c.1371T> A (p.Cys457Ter) single nucleotide variant Pathogenic rs587781201 GRCh38 Chromosome 15, 25370743: 25370743
59 UBE3A NM_130838.1(UBE3A): c.1387delG (p.Ala463Leufs) deletion Pathogenic rs587781202 GRCh38 Chromosome 15, 25370727: 25370727
60 UBE3A NM_130838.1(UBE3A): c.1505_1506delTC (p.Leu502Glnfs) deletion Pathogenic rs587781203 GRCh38 Chromosome 15, 25370608: 25370609
61 UBE3A NM_130838.1(UBE3A): c.1537dupG (p.Ala513Glyfs) duplication Pathogenic rs587781204 GRCh38 Chromosome 15, 25370577: 25370577
62 UBE3A NM_130838.1(UBE3A): c.1571dupA (p.Asn524Lysfs) duplication Pathogenic rs587781205 GRCh38 Chromosome 15, 25360505: 25360505
63 UBE3A NM_130838.1(UBE3A): c.1608dupT (p.Glu537Terfs) duplication Pathogenic rs587781206 GRCh38 Chromosome 15, 25360468: 25360468
64 UBE3A NM_130838.1(UBE3A): c.1639_1642dupGTTT (p.Ser548Cysfs) duplication Pathogenic rs587781207 GRCh38 Chromosome 15, 25360434: 25360437
65 UBE3A NM_130838.1(UBE3A): c.1730G> A (p.Trp577Ter) single nucleotide variant Pathogenic rs587781208 GRCh38 Chromosome 15, 25356860: 25356860
66 UBE3A NM_130838.1(UBE3A): c.1814_1824delTACTGGATGTA (p.Ile605Thrfs) deletion Pathogenic rs587781209 GRCh38 Chromosome 15, 25356766: 25356776
67 UBE3A NM_130838.1(UBE3A): c.1912_1913delAG (p.Ser638Phefs) deletion Pathogenic rs587781210 GRCh38 Chromosome 15, 25356043: 25356044
68 UBE3A NM_130838.1(UBE3A): c.1956_1963delCATGATGA (p.Met653Hisfs) deletion Pathogenic rs587781211 GRCh38 Chromosome 15, 25355993: 25356000
69 UBE3A NM_130838.1(UBE3A): c.1957dupA (p.Met653Asnfs) duplication Pathogenic rs587781212 GRCh38 Chromosome 15, 25355999: 25355999
70 UBE3A NM_130838.1(UBE3A): c.1972C> T (p.Gln658Ter) single nucleotide variant Pathogenic rs587781213 GRCh38 Chromosome 15, 25355984: 25355984
71 UBE3A NM_130838.1(UBE3A): c.1972delC (p.Gln658Argfs) deletion Pathogenic rs587781214 GRCh38 Chromosome 15, 25355984: 25355984
72 UBE3A NM_130838.1(UBE3A): c.2102_2103insTATT (p.Lys701Asnfs) insertion Pathogenic rs587781215 GRCh38 Chromosome 15, 25354645: 25354646
73 UBE3A NM_130838.1(UBE3A): c.2170_2174dupAAGTA (p.Tyr725Terfs) duplication Pathogenic rs587781216 GRCh38 Chromosome 15, 25354574: 25354578
74 UBE3A NM_130838.1(UBE3A): c.2177T> A (p.Leu726Ter) single nucleotide variant Pathogenic rs587781217 GRCh38 Chromosome 15, 25354571: 25354571
75 UBE3A NM_130838.1(UBE3A): c.2186delC (p.Pro729Glnfs) deletion Pathogenic rs587781218 GRCh38 Chromosome 15, 25354562: 25354562
76 UBE3A NM_130838.1(UBE3A): c.2233C> T (p.Gln745Ter) single nucleotide variant Pathogenic rs587781219 GRCh38 Chromosome 15, 25354414: 25354414
77 UBE3A NM_130838.1(UBE3A): c.2245G> T (p.Glu749Ter) single nucleotide variant Pathogenic rs587781220 GRCh38 Chromosome 15, 25354402: 25354402
78 UBE3A NM_130838.1(UBE3A): c.2245delG (p.Glu749Lysfs) deletion Pathogenic rs587781221 GRCh38 Chromosome 15, 25354402: 25354402
79 UBE3A NM_130838.1(UBE3A): c.2247_2251dupAACTA (p.Thr751Lysfs) duplication Pathogenic rs587781222 GRCh38 Chromosome 15, 25354396: 25354400
80 UBE3A NM_130838.1(UBE3A): c.2289dupG (p.Ile764Aspfs) duplication Pathogenic rs587781223 GRCh38 Chromosome 15, 25354358: 25354358
81 UBE3A NM_130838.1(UBE3A): c.2344_2345delTT (p.Phe782Leufs) deletion Pathogenic rs587781224 GRCh38 Chromosome 15, 25340178: 25340179
82 UBE3A NM_130838.1(UBE3A): c.2370_2373delCAGA (p.Asp790Glufs) deletion Pathogenic rs587781225 GRCh38 Chromosome 15, 25340150: 25340153
83 UBE3A NM_130838.1(UBE3A): c.2463_2521dup59 (p.Lys841Ilefs) duplication Pathogenic GRCh38 Chromosome 15, 25339175: 25339233
84 UBE3A NM_130838.1(UBE3A): c.2474T> A (p.Leu825Ter) single nucleotide variant Pathogenic rs587781226 GRCh38 Chromosome 15, 25339222: 25339222
85 UBE3A NM_130838.1(UBE3A): c.2478delT (p.Pro827Argfs) deletion Pathogenic rs587781227 GRCh38 Chromosome 15, 25339218: 25339218
86 UBE3A NM_130838.1(UBE3A): c.2487_2554del68 (p.Ser830Valfs) deletion Pathogenic GRCh38 Chromosome 15, 25339142: 25339209
87 UBE3A NM_130838.1(UBE3A): c.2489C> G (p.Ser830Ter) single nucleotide variant Pathogenic rs587781228 GRCh38 Chromosome 15, 25339207: 25339207
88 UBE3A NM_130838.1(UBE3A): c.2497_2500dupGAAA (p.Lys834Argfs) duplication Pathogenic rs587781229 GRCh38 Chromosome 15, 25339196: 25339199
89 UBE3A NM_130838.1(UBE3A): c.2503_2506dupCTTA (p.Lys836Thrfs) duplication Pathogenic rs587781230 GRCh38 Chromosome 15, 25339190: 25339193
90 UBE3A NM_130838.1(UBE3A): c.2507_2508delAA (p.Lys836Argfs) deletion Pathogenic rs587781231 GRCh38 Chromosome 15, 25339188: 25339189
91 UBE3A NM_130838.1(UBE3A): c.1633G> A (p.Gly545Arg) single nucleotide variant Pathogenic rs587781233 GRCh38 Chromosome 15, 25360443: 25360443
92 UBE3A NM_130838.1(UBE3A): c.1745_1747delCTT (p.Ser582del) deletion Pathogenic/Likely pathogenic rs587781234 GRCh38 Chromosome 15, 25356843: 25356845
93 UBE3A NM_130838.1(UBE3A): c.1750G> C (p.Glu584Gln) single nucleotide variant Pathogenic rs587781235 GRCh38 Chromosome 15, 25356840: 25356840
94 UBE3A NM_130838.1(UBE3A): c.1967C> T (p.Thr656Ile) single nucleotide variant Pathogenic rs587781236 GRCh38 Chromosome 15, 25355989: 25355989
95 UBE3A NM_130838.1(UBE3A): c.2069T> G (p.Phe690Cys) single nucleotide variant Pathogenic rs587781237 GRCh38 Chromosome 15, 25354679: 25354679
96 UBE3A NM_130838.1(UBE3A): c.2406_2408delGAT (p.Met802del) deletion Pathogenic rs587781238 GRCh37 Chromosome 15, 25585262: 25585264
97 UBE3A NM_130838.1(UBE3A): c.2480C> T (p.Pro827Leu) single nucleotide variant Pathogenic rs587781239 GRCh38 Chromosome 15, 25339216: 25339216
98 UBE3A NM_130838.1(UBE3A) duplication Pathogenic rs587781240 GRCh38 Chromosome 15, 25339189: 25339209
99 UBE3A NM_130838.1(UBE3A): c.317C> A (p.Thr106Lys) single nucleotide variant Pathogenic/Likely pathogenic rs587781241 GRCh38 Chromosome 15, 25371797: 25371797
100 UBE3A NM_130838.1(UBE3A): c.710T> A (p.Leu237His) single nucleotide variant Likely pathogenic rs587780582 GRCh38 Chromosome 15, 25371404: 25371404
101 UBE3A NM_130838.1(UBE3A): c.1304T> C (p.Leu435Pro) single nucleotide variant Likely pathogenic rs587781242 GRCh38 Chromosome 15, 25370810: 25370810
102 UBE3A NM_130838.1(UBE3A): c.1430G> C (p.Arg477Pro) single nucleotide variant Likely pathogenic rs587781243 GRCh38 Chromosome 15, 25370684: 25370684
103 UBE3A NM_130838.1(UBE3A): c.1697T> A (p.Met566Lys) single nucleotide variant Likely pathogenic rs587781244 GRCh38 Chromosome 15, 25356893: 25356893
104 UBE3A NM_130838.1(UBE3A): c.2503C> T (p.Leu835Phe) single nucleotide variant Likely pathogenic rs587783097 GRCh38 Chromosome 15, 25339193: 25339193
105 UBE3A NM_130838.1(UBE3A): c.2507_2510delAAGA (p.Lys836Argfs) deletion Pathogenic rs587784527 GRCh38 Chromosome 15, 25339186: 25339189
106 UBE3A NM_130838.1(UBE3A): c.2485T> C (p.Tyr829His) single nucleotide variant Pathogenic rs587784526 GRCh38 Chromosome 15, 25339211: 25339211
107 UBE3A NM_130838.1(UBE3A): c.1774_1777delATTG (p.Ile592Alafs) deletion Pathogenic rs587784520 GRCh38 Chromosome 15, 25356813: 25356816
108 UBE3A NM_130838.1(UBE3A): c.1763A> G (p.Gln588Arg) single nucleotide variant Likely pathogenic rs587782919 GRCh38 Chromosome 15, 25356827: 25356827
109 UBE3A NM_130838.1(UBE3A): c.1726_1730delTTTTG (p.Phe576Valfs) deletion Pathogenic rs587784519 GRCh38 Chromosome 15, 25356860: 25356864
110 UBE3A NM_130838.1(UBE3A): c.1688A> G (p.Asp563Gly) single nucleotide variant Likely pathogenic rs587784518 GRCh38 Chromosome 15, 25360388: 25360388
111 UBE3A NM_130838.1(UBE3A): c.1634G> A (p.Gly545Glu) single nucleotide variant Likely pathogenic rs587784516 GRCh38 Chromosome 15, 25360442: 25360442
112 UBE3A NM_130838.1(UBE3A): c.1599T> A (p.Tyr533Ter) single nucleotide variant Pathogenic rs587784515 GRCh38 Chromosome 15, 25360477: 25360477
113 UBE3A NM_130838.1(UBE3A): c.1567G> T (p.Glu523Ter) single nucleotide variant Pathogenic rs587784514 GRCh38 Chromosome 15, 25360509: 25360509
114 UBE3A NM_130838.1(UBE3A): c.1461_1468delCTACAGCT (p.Tyr488Serfs) deletion Pathogenic rs587784513 GRCh38 Chromosome 15, 25370646: 25370653
115 UBE3A NM_130838.1(UBE3A): c.1347_1348delGA (p.Asn450Glnfs) deletion Pathogenic rs587784512 GRCh38 Chromosome 15, 25370766: 25370767
116 UBE3A NM_130838.1(UBE3A): c.1110_1113delTGAA (p.Asn370Lysfs) deletion Pathogenic rs587784509 GRCh38 Chromosome 15, 25371001: 25371004
117 UBE3A NM_130838.1(UBE3A): c.1090G> T (p.Glu364Ter) single nucleotide variant Pathogenic rs587784508 GRCh38 Chromosome 15, 25371024: 25371024
118 UBE3A NM_130838.1(UBE3A): c.964C> T (p.Gln322Ter) single nucleotide variant Pathogenic rs587784534 GRCh38 Chromosome 15, 25371150: 25371150
119 UBE3A NM_130838.1(UBE3A): c.829G> T (p.Glu277Ter) single nucleotide variant Pathogenic rs587784533 GRCh38 Chromosome 15, 25371285: 25371285
120 UBE3A NM_130838.1(UBE3A): c.505_511delGAAAAGG (p.Glu169Lysfs) deletion Pathogenic rs587784532 GRCh38 Chromosome 15, 25371603: 25371609
121 UBE3A NM_130838.1(UBE3A): c.388_399delATTGGAAGAGTT (p.Ile130_Val133del) deletion Likely pathogenic rs587784531 GRCh38 Chromosome 15, 25371715: 25371726
122 UBE3A NM_130838.1(UBE3A): c.380delT (p.Ile127Thrfs) deletion Pathogenic rs587784530 GRCh38 Chromosome 15, 25371734: 25371734
123 UBE3A NM_130838.1(UBE3A): c.317_321delCAGAA (p.Thr106Argfs) deletion Pathogenic rs587784529 GRCh38 Chromosome 15, 25371793: 25371797
124 UBE3A NM_130838.1(UBE3A): c.486_487insCT (p.Glu163Leufs) insertion Pathogenic rs786200996 GRCh37 Chromosome 15, 25616774: 25616775
125 MECP2 NM_004992.3(MECP2): c.1159_1210del52 (p.Pro387Serfs) deletion Pathogenic GRCh37 Chromosome X, 153296069: 153296120
126 UBE3A NM_130838.1(UBE3A): c.1762_1763delCA (p.Gln588Valfs) deletion Pathogenic rs794727738 GRCh37 Chromosome 15, 25601974: 25601975
127 subset of 23 genes:MAGEL2; SNURF; UBE3A NC_000015.9: g.(?_23730704)_(28530182_?)del deletion Pathogenic GRCh37 Chromosome 15, 23730704: 28530182
128 UBE3A NM_130838.1(UBE3A): c.2547_2548insT (p.Gly850Trpfs) duplication Pathogenic rs797046088 GRCh38 Chromosome 15, 25339149: 25339149
129 UBE3A NM_130838.1(UBE3A): c.2503_2507dupCTTAA (p.Lys836Asnfs) duplication Pathogenic rs587781240 GRCh38 Chromosome 15, 25339189: 25339193
130 UBE3A NM_130838.1(UBE3A): c.2463_2506dup44 (p.Lys836Ilefs) <