EIEE2
MCID: EPL025
MIFTS: 48

Epileptic Encephalopathy, Early Infantile, 2 (EIEE2)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 2

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 2:

Name: Epileptic Encephalopathy, Early Infantile, 2 56 73 13 71
Early Infantile Epileptic Encephalopathy 2 12 25 29 6 15
Cdkl5 Deficiency Disorder 52 25 58
Cdkl5-Related Epileptic Encephalopathy 25 58
Cdkl5 Deficiency 52 25
Cdkl5 Disorder 52 25
Eiee2 56 73
Issx2 56 73
Encephalopathy, Epileptic, Early Infantile, Type 2 39
X-Linked Dominant Infantile Spasm Syndrome-2 52
Infantile Spasm Syndrome, X-Linked 2; Issx2 56
Rett Syndrome Variant with Infantile Spasms 73
Early Infantile Epileptic Encephalopathy-2 52
Rett Syndrome Early-Onset Seizure Variant 73
Atypical Rett Syndrome Hanefeld Variant 73
Infantile Spasm Syndrome, X-Linked 2 56
Atypical Rett Syndrome Cdkl5-Related 73
X-Linked Infantile Spasm Syndrome 2 12
Infantile Spasm Syndrome X-Linked 2 73
Cdkl5-Related Disorder 52
Cdkl5-Related Epilepsy 25
Cdkl5 Encephalopathy 25
Cdkl5 52

Characteristics:

OMIM:

56
Miscellaneous:
onset in infancy
males are more severely affected
seizures are usually refractory
females are most often affected, but rare male cases have been reported
dysmorphic facial features are subtle
some phenotypic overlap with rett syndrome

Inheritance:
x-linked dominant


HPO:

31
epileptic encephalopathy, early infantile, 2:
Onset and clinical course infantile onset
Inheritance x-linked dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Epileptic Encephalopathy, Early Infantile, 2

Genetics Home Reference : 25 CDKL5 deficiency disorder is characterized by seizures that begin in infancy, followed by significant delays in many aspects of development. Seizures in CDKL5 deficiency disorder usually begin within the first 3 months of life, and they can appear as early as the first week after birth. The types of seizures change with age, and they usually follow a predictable pattern. Seizures occur daily in most affected individuals, and they are resistant to treatment. Development is impaired in children with CDKL5 deficiency disorder. Most have severe intellectual disability and little or no speech. The development of gross motor skills, such as sitting, standing, and walking, is delayed. About one-third of affected individuals are able to walk independently. Fine motor skills, such as picking up small objects with the fingers, are also impaired; about half of affected individuals have purposeful use of their hands. Other common features of CDKL5 deficiency disorder include repetitive hand movements (stereotypies), such as clapping, hand licking, and hand sucking; tooth grinding (bruxism); disrupted sleep; feeding difficulties; and gastrointestinal problems including constipation and backflow of acidic stomach contents into the esophagus (gastroesophageal reflux). Some affected individuals have episodes of irregular breathing. Distinctive facial features in some people with CDKL5 deficiency disorder include a high and broad forehead, large and deep-set eyes, a well-defined space between the nose and upper lip (philtrum), full lips, widely spaced teeth, and a high roof of the mouth (palate). Other physical differences can also occur, such as an unusually small head size (microcephaly), side-to-side curvature of the spine (scoliosis), and tapered fingers. About 90 percent of people diagnosed with CDKL5 deficiency disorder are female. Affected males tend to have more severe developmental disabilities, including profound intellectual disability and almost no development of gross and fine motor skills. CDKL5 deficiency disorder was previously classified as an atypical form of Rett syndrome. These conditions have overlapping features, including seizures, intellectual disability, and other problems with development. However, the signs and symptoms associated with CDKL5 deficiency disorder and its genetic cause are distinct from those of Rett syndrome, and CDKL5 deficiency disorder is now considered a separate condition.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 2, also known as early infantile epileptic encephalopathy 2, is related to landau-kleffner syndrome and epileptic encephalopathy, early infantile, 6, and has symptoms including constipation, myoclonus and difficulty sleeping. An important gene associated with Epileptic Encephalopathy, Early Infantile, 2 is CDKL5 (Cyclin Dependent Kinase Like 5). The drugs Anticonvulsants and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotypes are eeg with generalized slow activity and seizures

Disease Ontology : 12 An early infantile epileptic encephalopathy characterized by X-linked dominant inheritance of seizure onset in the first months of life, intellectual disability, and poor motor control that has material basis in mutation in the CDKL5 gene on chromosome Xp22.

NIH Rare Diseases : 52 CDKL5 deficiency disorder is a genetic disorder that causes seizures , developmental delay , and severe intellectual disability . Seizures typically begin within a few months after birth and are difficult to control with medications. Most children have 1 to 5 seizures every day. Other symptoms include problems with sleeping, feeding, and teeth grinding. Gastrointestinal symptoms are also common and may include constipation, reflux, and air swallowing. About 1 in 5 children use a feeding tube . CDKL5 deficiency disorder occurs more often in females than males, and males usually have more severe symptoms. This disorder is caused by a change (pathogenic variant) in the CDKL5 gene that is usually not inherited from either parent (de novo ). It is an X-linked dominant disorder. CDKL5 deficiency disorder was once thought to be a variant of Rett syndrome but is now considered a separate disorder.

OMIM : 56 Early infantile epileptic encephalopathy-2 is an X-linked dominant severe neurologic disorder characterized by onset of seizures in the first months of life and severe global developmental delay resulting in mental retardation and poor motor control. Other features include lack of speech development, subtle dysmorphic facial features, sleep disturbances, gastrointestinal problems, and stereotypic hand movements. There is some phenotypic overlap with Rett syndrome (312750), but EIEE2 is considered to be a distinct entity (summary by Fehr et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350). (300672)

UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 2: A severe form of epilepsy characterized by seizures or spasms beginning in infancy. Patients with epileptic encephalopathy early infantile type 2 manifest features resembling Rett syndrome such as microcephaly, lack of speech development, stereotypic hand movements. However, EIEE2 and Rett syndrome are considered two distinct entities.

Related Diseases for Epileptic Encephalopathy, Early Infantile, 2

Diseases in the Early Infantile Epileptic Encephalopathy family:

Epileptic Encephalopathy, Early Infantile, 9 Epileptic Encephalopathy, Early Infantile, 8
Epileptic Encephalopathy, Early Infantile, 2 Epileptic Encephalopathy, Early Infantile, 36
Epileptic Encephalopathy, Early Infantile, 1 Epileptic Encephalopathy, Early Infantile, 6
Epileptic Encephalopathy, Early Infantile, 3 Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 39 Epileptic Encephalopathy, Early Infantile, 5
Epileptic Encephalopathy, Early Infantile, 7 Epileptic Encephalopathy, Early Infantile, 11
Epileptic Encephalopathy, Early Infantile, 12 Epileptic Encephalopathy, Early Infantile, 13
Epileptic Encephalopathy, Early Infantile, 14 Epileptic Encephalopathy, Early Infantile, 15
Epileptic Encephalopathy, Early Infantile, 16 Epileptic Encephalopathy, Early Infantile, 17
Epileptic Encephalopathy, Early Infantile, 18 Epileptic Encephalopathy, Early Infantile, 19
Epileptic Encephalopathy, Early Infantile, 21 Epileptic Encephalopathy, Early Infantile, 23
Epileptic Encephalopathy, Early Infantile, 24 Epileptic Encephalopathy, Early Infantile, 26
Epileptic Encephalopathy, Early Infantile, 27 Epileptic Encephalopathy, Early Infantile, 28
Epileptic Encephalopathy, Early Infantile, 29 Epileptic Encephalopathy, Early Infantile, 30
Epileptic Encephalopathy, Early Infantile, 31 Epileptic Encephalopathy, Early Infantile, 32
Epileptic Encephalopathy, Early Infantile, 33 Epileptic Encephalopathy, Early Infantile, 50
Epileptic Encephalopathy, Early Infantile, 34 Epileptic Encephalopathy, Early Infantile, 35
Epileptic Encephalopathy, Early Infantile, 37 Epileptic Encephalopathy, Early Infantile, 38
Epileptic Encephalopathy, Early Infantile, 40 Epileptic Encephalopathy, Early Infantile, 41
Epileptic Encephalopathy, Early Infantile, 42 Epileptic Encephalopathy, Early Infantile, 43
Epileptic Encephalopathy, Early Infantile, 44 Epileptic Encephalopathy, Early Infantile, 45
Epileptic Encephalopathy, Early Infantile, 46 Epileptic Encephalopathy, Early Infantile, 47
Epileptic Encephalopathy, Early Infantile, 48 Epileptic Encephalopathy, Early Infantile, 49
Epileptic Encephalopathy, Early Infantile, 51 Epileptic Encephalopathy, Early Infantile, 52
Epileptic Encephalopathy, Early Infantile, 53 Epileptic Encephalopathy, Early Infantile, 54
Epileptic Encephalopathy, Early Infantile, 55 Epileptic Encephalopathy, Early Infantile, 56
Epileptic Encephalopathy, Early Infantile, 57 Epileptic Encephalopathy, Early Infantile, 58
Epileptic Encephalopathy, Early Infantile, 59 Epileptic Encephalopathy, Early Infantile, 60
Epileptic Encephalopathy, Early Infantile, 61 Epileptic Encephalopathy, Early Infantile, 62
Epileptic Encephalopathy, Early Infantile, 63 Epileptic Encephalopathy, Early Infantile, 64
Epileptic Encephalopathy, Early Infantile, 65 Epileptic Encephalopathy, Early Infantile, 66
Epileptic Encephalopathy, Early Infantile, 67 Epileptic Encephalopathy, Early Infantile, 68
Epileptic Encephalopathy, Early Infantile, 69 Epileptic Encephalopathy, Early Infantile, 70
Epileptic Encephalopathy, Early Infantile, 71 Epileptic Encephalopathy, Early Infantile, 72
Epileptic Encephalopathy, Early Infantile, 73 Epileptic Encephalopathy, Early Infantile, 74
Epileptic Encephalopathy, Early Infantile, 75 Epileptic Encephalopathy, Early Infantile, 76
Epileptic Encephalopathy, Early Infantile, 77 Epileptic Encephalopathy, Early Infantile, 78
Epileptic Encephalopathy, Early Infantile, 79 Epileptic Encephalopathy, Early Infantile, 80
Epileptic Encephalopathy, Early Infantile, 81 Arx-Related Epileptic Encephalopathy

Diseases related to Epileptic Encephalopathy, Early Infantile, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 81)
# Related Disease Score Top Affiliating Genes
1 landau-kleffner syndrome 31.5 CNTNAP2 CDKL5
2 epileptic encephalopathy, early infantile, 6 31.5 CNTNAP2 CDKL5
3 pitt-hopkins syndrome 31.4 CNTNAP2 CDKL5
4 kleefstra syndrome 31.2 NSD1 CDKL5
5 early infantile epileptic encephalopathy 11.7
6 autism 11.6
7 early myoclonic encephalopathy 11.5
8 benign neonatal seizures 11.3
9 47, xxy 11.3
10 angelman syndrome 11.2
11 focal epilepsy 11.2
12 bruxism 11.2
13 amyotrophic lateral sclerosis 1 11.2
14 methylmalonic acidemia 11.2
15 mowat-wilson syndrome 11.0
16 epilepsy, myoclonic juvenile 11.0
17 epileptic encephalopathy, early infantile, 9 11.0
18 lubs x-linked mental retardation syndrome 11.0
19 epilepsy, idiopathic generalized 11.0
20 nicolaides-baraitser syndrome 11.0
21 myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency 11.0
22 lennox-gastaut syndrome 11.0
23 electroclinical syndrome 11.0
24 neonatal period electroclinical syndrome 11.0
25 infancy electroclinical syndrome 11.0
26 childhood electroclinical syndrome 11.0
27 specific developmental disorder 11.0
28 pervasive developmental disorder 11.0
29 benign familial infantile epilepsy 11.0
30 generalized epilepsy with febrile seizures plus 11.0
31 christianson syndrome 11.0
32 benign familial neonatal epilepsy 11.0
33 childhood absence epilepsy 11.0
34 congenital nervous system abnormality 11.0
35 benign epilepsy with centrotemporal spikes 11.0
36 gait apraxia 11.0
37 hypotonia 10.5
38 alacrima, achalasia, and mental retardation syndrome 10.4
39 rett syndrome 10.3
40 epilepsy 10.3
41 microcephaly 10.2
42 myoclonus 10.2
43 cerebral visual impairment 10.2
44 epileptic encephalopathy, early infantile, 15 10.1
45 autism spectrum disorder 10.1
46 neuroblastoma 10.1
47 15q duplication syndrome and related disorders 10.1
48 aicardi syndrome 10.0
49 west syndrome 10.0
50 visual epilepsy 10.0

Graphical network of the top 20 diseases related to Epileptic Encephalopathy, Early Infantile, 2:



Diseases related to Epileptic Encephalopathy, Early Infantile, 2

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 2

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 2:

31 (show all 31)
# Description HPO Frequency HPO Source Accession
1 eeg with generalized slow activity 31 very rare (1%) HP:0010845
2 seizures 31 HP:0001250
3 muscular hypotonia 31 HP:0001252
4 constipation 31 HP:0002019
5 developmental regression 31 HP:0002376
6 scoliosis 31 HP:0002650
7 global developmental delay 31 HP:0001263
8 anteverted nares 31 HP:0000463
9 gastroesophageal reflux 31 HP:0002020
10 myoclonus 31 HP:0001336
11 stereotypy 31 HP:0000733
12 prominent forehead 31 HP:0011220
13 generalized hypotonia 31 HP:0001290
14 generalized myoclonic seizures 31 HP:0002123
15 thick lower lip vermilion 31 HP:0000179
16 short palm 31 HP:0004279
17 short foot 31 HP:0001773
18 inability to walk 31 HP:0002540
19 broad forehead 31 HP:0000337
20 deeply set eye 31 HP:0000490
21 small hand 31 HP:0200055
22 epileptic encephalopathy 31 HP:0200134
23 hypsarrhythmia 31 HP:0002521
24 intellectual disability, profound 31 HP:0002187
25 infantile spasms 31 HP:0012469
26 tapered finger 31 HP:0001182
27 poor eye contact 31 HP:0000817
28 cerebral visual impairment 31 HP:0100704
29 hyperventilation 31 HP:0002883
30 progressive microcephaly 31 HP:0000253
31 multifocal seizures 31 HP:0031165

Symptoms via clinical synopsis from OMIM:

56
Abdomen Gastrointestinal:
constipation
gastroesophageal reflux

Head And Neck Nose:
anteverted nares

Head And Neck Face:
prominent forehead
broad forehead

Muscle Soft Tissue:
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
autistic features
breath-holding episodes
stereotyped behaviors
hand-wringing

Head And Neck Mouth:
full lips

Head And Neck Head:
microcephaly, progressive

Skeletal Spine:
scoliosis

Neurologic Central Nervous System:
myoclonus
hypsarrhythmia
infantile spasms
poor eye contact
multifocal seizures
more
Respiratory:
hyperventilation
breath-holding episodes

Head And Neck Eyes:
well-defined eyebrows
deep-set eyes
large-appearing eyes

Skeletal Hands:
small hands
tapering fingers

Skeletal Feet:
small feet

Clinical features from OMIM:

300672

UMLS symptoms related to Epileptic Encephalopathy, Early Infantile, 2:


constipation, myoclonus, difficulty sleeping, myoclonic seizures

MGI Mouse Phenotypes related to Epileptic Encephalopathy, Early Infantile, 2:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.1 CDKL5 CHRNA6 CNTNAP2 NIPBL SHTN1 USP9X

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 2

Drugs for Epileptic Encephalopathy, Early Infantile, 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anticonvulsants Phase 2
2 Neurotransmitter Agents Phase 2
3 Serotonin Uptake Inhibitors Phase 2
4 Pharmaceutical Solutions Phase 2
5 Serotonin Agents Phase 2
6 Anesthetics Phase 2
7 Central Nervous System Depressants Phase 2
8 Pregnanolone Phase 2 128-20-1
9
Serotonin Investigational, Nutraceutical Phase 2 50-67-9 5202
10
Heparin Approved, Investigational 9005-49-6 772 46507594
11 calcium heparin

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 A Double-blind, Randomized, Placebo-controlled Trial of Adjunctive Ganaxolone Treatment in Children and Young Adults With Cyclin-dependent Kinase-like 5 (CDKL5) Deficiency Disorder (CDD) Followed by Long-term Open-label Treatment Recruiting NCT03572933 Phase 3 ganaxolone;Placebo
2 A Multicenter, Open-label, Pilot Study of TAK-935 (OV935) in Patients With 15Q Duplication Syndrome or CDKL5 Deficiency Disorder (ARCADE Study) Recruiting NCT03694275 Phase 2 TAK-935
3 Fenfluramine in CKDL5 Deficiency Disorder (CDD) Recruiting NCT03861871 Phase 2 Fenfluramine Hydrochloride
4 A Phase 2, Prospective, Interventional, Open-Label, Multi-Site, Extension Study to Assess the Long-Term Safety and Tolerability of TAK-935 (OV935) as Adjunctive Therapy in Patients With Rare Epilepsy Recruiting NCT03635073 Phase 2 TAK-935
5 A Phase 2, Multicenter, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy, Safety, and Tolerability of TAK-935 as an Adjunctive Therapy in Pediatric Patients With Developmental and/or Epileptic Encephalopathies Recruiting NCT03650452 Phase 2 TAK-935;Placebo
6 A Phase 2 Randomized, Double-Masked Placebo-Controlled Crossover Safety and Tolerability Study of Ataluren for Drug Resistant Epilepsy in Patients With Nonsense Mutation CDKL5 or Dravet Syndrome Active, not recruiting NCT02758626 Phase 2 ataluren;Placebo
7 A Multicenter, Open-Label Proof-of-Concept Trial of Ganaxolone in Children With PCDH19 Female Pediatric Epilepsy and Other Rare Genetic Epilepsies Followed by 52 Week Open-Label Treatment Active, not recruiting NCT02358538 Phase 2 Ganaxolone
8 Molecular Characterization of a Cohort of 73 Patients With Infantile Spasms Syndrome Completed NCT02885389
9 Search for New Genes Involved in Molecular Etiology of Rett Syndrome Through Comparative Genomic Hybridization on DNA Microarrays Completed NCT02885090
10 Rett Syndrome Natural History: Genetic and Physical Characteristics of Rett Syndrome Completed NCT00299312
11 Rett Syndrome, MECP2 Duplication Disorder, and Rett- Related Disorders Natural History Protocol Recruiting NCT02738281
12 Biobanking of Rett Syndrome and Related Disorders Protocol Recruiting NCT02705677
13 Rett Syndrome, MECP2 Duplication, and Rett-Related Disorders Consortium, Rare Disease Clinical Research Network: Neurophysiologic Correlates Recruiting NCT03077308

Search NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 2

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 2

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 2:

# Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy 2 29

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 2

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 2:

40
Eye

Publications for Epileptic Encephalopathy, Early Infantile, 2

Articles related to Epileptic Encephalopathy, Early Infantile, 2:

(show all 24)
# Title Authors PMID Year
1
Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature. 6 56
19793311 2009
2
Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes. 56 6
19241098 2009
3
A CDKL5 mutated child with precocious puberty. 6 56
19396824 2009
4
CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy. 56 6
18809835 2008
5
Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy. 6 56
17993579 2008
6
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. 56 6
15689447 2005
7
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. 56 6
15499549 2004
8
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. 6 56
15492925 2004
9
Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females. 61 56
21293276 2011
10
The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy. 56
22872100 2013
11
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 6
23339110 2013
12
Somatic mosaicism for a CDKL5 mutation as an epileptic encephalopathy in males. 56
20602487 2010
13
CDKL5 disruption by t(X;18) in a girl with West syndrome. 56
18564362 2008
14
The three stages of epilepsy in patients with CDKL5 mutations. 56
18266744 2008
15
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 6
18487195 2008
16
Clinical and electroencephalographic features in patients with CDKL5 mutations: two new Italian cases and review of the literature. 56
18063413 2008
17
Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes. 56
17256798 2007
18
CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. 6
16611748 2006
19
Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome. 6
16813600 2006
20
Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. 56
12736870 2003
21
Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome. 56
12746405 2003
22
Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder. 52
27770071 2016
23
Mutation in an alternative transcript of CDKL5 in a boy with early-onset seizures. 61
29444904 2018
24
Sequential Elution Interactome Analysis of the Mind Bomb 1 Ubiquitin Ligase Reveals a Novel Role in Dendritic Spine Outgrowth. 61
25931508 2015

Variations for Epileptic Encephalopathy, Early Infantile, 2

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 2:

6 (show top 50) (show all 240) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CDKL5 CDKL5, 1-BP DEL, 183Tdeletion Pathogenic 11494
2 CDKL5 CDKL5, IVSAS13, G-A, -1SNV Pathogenic 11495
3 CDKL5 NM_001323289.2(CDKL5):c.455G>T (p.Cys152Phe)SNV Pathogenic 11496 rs122460157 X:18600062-18600062 X:18581942-18581942
4 CDKL5 NM_001323289.2(CDKL5):c.525A>T (p.Arg175Ser)SNV Pathogenic 11497 rs61749700 X:18602444-18602444 X:18584324-18584324
5 CDKL5 CDKL5, 4-BP DEL, 166GAAAdeletion Pathogenic 11498
6 CDKL5 CDKL5, 2-BP DEL, 2636CTdeletion Pathogenic 11499
7 CDKL5 NM_001323289.2(CDKL5):c.2500C>T (p.Gln834Ter)SNV Pathogenic 11500 rs122460158 X:18646494-18646494 X:18628374-18628374
8 CDKL5 CDKL5, IVS6AS, G-T, -1SNV Pathogenic 11501
9 CDKL5 NM_001323289.2(CDKL5):c.119C>T (p.Ala40Val)SNV Pathogenic 11502 rs122460159 X:18582616-18582616 X:18564496-18564496
10 CDKL5 NM_001323289.2(CDKL5):c.215T>C (p.Ile72Thr)SNV Pathogenic 11503 rs62641235 X:18593543-18593543 X:18575423-18575423
11 CDKL5 NM_001323289.2(CDKL5):c.863C>T (p.Thr288Ile)SNV Pathogenic 11504 rs267606713 X:18616619-18616619 X:18598499-18598499
12 CDKL5 NM_001323289.2(CDKL5):c.533G>C (p.Arg178Pro)SNV Pathogenic 18450 rs267606715 X:18602452-18602452 X:18584332-18584332
13 CDKL5 NM_001323289.2(CDKL5):c.1039C>T (p.Gln347Ter)SNV Pathogenic 143767 rs267608561 X:18622083-18622083 X:18603963-18603963
14 CDKL5 NM_001323289.2(CDKL5):c.1079del (p.Leu360fs)deletion Pathogenic 143768 rs267608565 X:18622123-18622123 X:18604003-18604003
15 CDKL5 NM_001323289.2(CDKL5):c.1082dup (p.Ala362fs)duplication Pathogenic 143769 rs267608566 X:18622126-18622126 X:18604006-18604006
16 CDKL5 NM_001323289.2(CDKL5):c.1238C>G (p.Ser413Ter)SNV Pathogenic 143771 rs267608618 X:18622282-18622282 X:18604162-18604162
17 CDKL5 NM_001323289.2(CDKL5):c.125A>G (p.Lys42Arg)SNV Pathogenic 143772 rs267608429 X:18582622-18582622 X:18564502-18564502
18 CDKL5 NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter)SNV Pathogenic 143780 rs267608643 X:18622692-18622692 X:18604572-18604572
19 CDKL5 NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter)SNV Pathogenic 143781 rs267608395 X:18622719-18622719 X:18604599-18604599
20 CDKL5 NM_001323289.2(CDKL5):c.175C>T (p.Arg59Ter)SNV Pathogenic 143783 rs62653623 X:18593503-18593503 X:18575383-18575383
21 CDKL5 NM_001323289.2(CDKL5):c.183del (p.Met63fs)deletion Pathogenic 143785 rs62643608 X:18593511-18593511 X:18575391-18575391
22 CDKL5 NM_001323289.2(CDKL5):c.1954C>T (p.Gln652Ter)SNV Pathogenic 143790 rs267608647 X:18626940-18626940 X:18608820-18608820
23 CDKL5 NM_001323289.2(CDKL5):c.199C>T (p.Leu67Phe)SNV Pathogenic 143791 rs267608437 X:18593527-18593527 X:18575407-18575407
24 CDKL5 NM_001323289.2(CDKL5):c.2016del (p.Ser673fs)deletion Pathogenic 143792 rs267608648 X:18627002-18627002 X:18608882-18608882
25 CDKL5 NM_001323289.2(CDKL5):c.2016dup (p.Ser673fs)duplication Pathogenic 143793 rs267608648 X:18627002-18627002 X:18608882-18608882
26 CDKL5 NM_001323289.2(CDKL5):c.2066del (p.Pro689fs)deletion Pathogenic 143795 rs267608651 X:18627604-18627604 X:18609484-18609484
27 CDKL5 NM_001323289.2(CDKL5):c.2152G>A (p.Val718Met)SNV Pathogenic 143796 rs267608653 X:18627690-18627690 X:18609570-18609570
28 CDKL5 NM_001323289.2(CDKL5):c.225_228GAAG[1] (p.Glu77fs)short repeat Pathogenic 143799 rs267608441 X:18593557-18593560 X:18575437-18575440
29 CDKL5 NM_001323289.2(CDKL5):c.2323_2324GA[1] (p.Lys776fs)short repeat Pathogenic 143800 rs267608654 X:18638035-18638036 X:18619915-18619916
30 CDKL5 NM_001323289.2(CDKL5):c.2343del (p.Arg781fs)deletion Pathogenic 143801 rs62643614 X:18638053-18638053 X:18619933-18619933
31 CDKL5 NM_001323289.2(CDKL5):c.2363_2367del (p.Lys788fs)deletion Pathogenic 143802 rs267608655 X:18638073-18638077 X:18619953-18619957
32 CDKL5 NM_001323289.2(CDKL5):c.39del (p.Phe13fs)deletion Pathogenic 143819 rs267608415 X:18525255-18525255 X:18507135-18507135
33 CDKL5 NM_001323289.2(CDKL5):c.400C>T (p.Arg134Ter)SNV Pathogenic 143820 rs267608472 X:18598085-18598085 X:18579965-18579965
34 CDKL5 NM_001323289.2(CDKL5):c.425T>A (p.Leu142Ter)SNV Pathogenic 143821 rs267608477 X:18600032-18600032 X:18581912-18581912
35 CDKL5 NM_001323289.2(CDKL5):c.513C>A (p.Tyr171Ter)SNV Pathogenic 143822 rs267608490 X:18602432-18602432 X:18584312-18584312
36 CDKL5 NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp)SNV Pathogenic 143823 rs267608493 X:18602451-18602451 X:18584331-18584331
37 CDKL5 NM_001323289.2(CDKL5):c.539C>T (p.Pro180Leu)SNV Pathogenic 143824 rs61749704 X:18602458-18602458 X:18584338-18584338
38 CDKL5 NM_001323289.2(CDKL5):c.549dup (p.Leu184fs)duplication Pathogenic 143825 rs267608497 X:18602468-18602468 X:18584348-18584348
39 CDKL5 NM_001323289.2(CDKL5):c.578A>G (p.Asp193Gly)SNV Pathogenic 143826 rs267608500 X:18606097-18606097 X:18587977-18587977
40 CDKL5 NM_001323289.2(CDKL5):c.2504del (p.Pro835fs)deletion Pathogenic 143805 rs267608660 X:18646498-18646498 X:18628378-18628378
41 CDKL5 NM_001323289.2(CDKL5):c.2529del (p.Leu843fs)deletion Pathogenic 143806 rs267608661 X:18646523-18646523 X:18628403-18628403
42 CDKL5 NM_001323289.2(CDKL5):c.2572del (p.Arg858fs)deletion Pathogenic 143807 rs267608662 X:18646566-18646566 X:18628446-18628446
43 CDKL5 NM_001323289.2(CDKL5):c.2593C>T (p.Gln865Ter)SNV Pathogenic 143808 rs267608663 X:18646587-18646587 X:18628467-18628467
44 CDKL5 NM_001323289.2(CDKL5):c.659T>C (p.Leu220Pro)SNV Pathogenic 143830 rs267608511 X:18606178-18606178 X:18588058-18588058
45 CDKL5 NM_003159.2(CDKL5):c.65dupGduplication Pathogenic 143831 rs267608420 X:18528940-18528940 X:18510820-18510820
46 CDKL5 NM_001323289.2(CDKL5):c.801_802del (p.Asn267fs)deletion Pathogenic 143833 rs267608528 X:18613524-18613525 X:18595404-18595405
47 CDKL5 NM_001323289.2(CDKL5):c.964dup (p.Thr322fs)duplication Pathogenic 143840 rs267608552 X:18616720-18616720 X:18598600-18598600
48 CDKL5 NM_001323289.2(CDKL5):c.100-2A>GSNV Pathogenic 156073 rs267608423 X:18582595-18582595 X:18564475-18564475
49 CDKL5 NM_001323289.2(CDKL5):c.2376+1G>ASNV Pathogenic 156080 rs267608656 X:18638087-18638087 X:18619967-18619967
50 CDKL5 NM_001323289.2(CDKL5):c.2376+1G>CSNV Pathogenic 156081 rs267608656 X:18638087-18638087 X:18619967-18619967

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 2:

73 (show all 18)
# Symbol AA change Variation ID SNP ID
1 CDKL5 p.Cys152Phe VAR_023560 rs122460157
2 CDKL5 p.Arg175Ser VAR_023561 rs61749700
3 CDKL5 p.Pro180Leu VAR_037635 rs61749704
4 CDKL5 p.Ala40Val VAR_058022 rs122460159
5 CDKL5 p.Ile72Asn VAR_058023 rs62641235
6 CDKL5 p.Ile72Thr VAR_058024 rs62641235
7 CDKL5 p.His127Arg VAR_058025 rs267608468
8 CDKL5 p.Arg178Pro VAR_058026 rs267606715
9 CDKL5 p.Leu220Pro VAR_058027 rs267608511
10 CDKL5 p.Thr288Ile VAR_058028 rs267606713
11 CDKL5 p.Cys291Tyr VAR_058029 rs267606714
12 CDKL5 p.Asn399Thr VAR_058030 rs267608611
13 CDKL5 p.Val718Met VAR_058032 rs267608653
14 CDKL5 p.Arg178Gln VAR_071103 rs267606715
15 CDKL5 p.Ser196Leu VAR_078219 rs267608501
16 CDKL5 p.Leu182Pro VAR_078626
17 CDKL5 p.Gly207Glu VAR_078627
18 CDKL5 p.Arg178Trp VAR_078712 rs267608493

Expression for Epileptic Encephalopathy, Early Infantile, 2

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 2.

Pathways for Epileptic Encephalopathy, Early Infantile, 2

GO Terms for Epileptic Encephalopathy, Early Infantile, 2

Cellular components related to Epileptic Encephalopathy, Early Infantile, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 8.92 USP9X SHTN1 CNTNAP2 CDKL5

Biological processes related to Epileptic Encephalopathy, Early Infantile, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuron projection morphogenesis GO:0048812 9.16 SHTN1 CNTNAP2
2 positive regulation of axon extension GO:0045773 8.96 SHTN1 CDKL5
3 positive regulation of neuron migration GO:2001224 8.62 SHTN1 NIPBL

Sources for Epileptic Encephalopathy, Early Infantile, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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61 PubMed
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68 SNOMED-CT via HPO
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70 Tocris
71 UMLS
72 UMLS via Orphanet
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