DEE1
MCID: DVL033
MIFTS: 56

Developmental and Epileptic Encephalopathy 1 (DEE1)

Categories: Cancer diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Developmental and Epileptic Encephalopathy 1

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 1:

Name: Developmental and Epileptic Encephalopathy 1 57 12 43
Epileptic Encephalopathy, Early Infantile, 1 57 43 73 29 13 6
Infantile Epileptic-Dyskinetic Encephalopathy 57 43 58 73
Eiee1 57 43 73
Issx1 57 43 73
Infantile Epileptic Dyskinetic Encephalopathy 29 6
Early Infantile Epileptic Encephalopathy 1 12 15
X-Linked Infantile Spasm Syndrome 1 12 43
Xmesid 57 73
Dee1 57 12
Myoclonic Epilepsy X-Linked with Intellectual Disability and Spasticity 73
X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome 58
Epileptic Encephalopathy, Early Infantile, 1; Eiee1 57
Encephalopathy, Epileptic, Early Infantile, Type 1 39
Infantile Spasm Syndrome, X-Linked 1; Issx1 57
Early Infantile Epileptic Encephalopathy-1 43
Infantile Spasm Syndrome, X-Linked 1 57
Infantile Spasm Syndrome X-Linked 1 73
X-Linked Infantile Spasm Syndrome 43
Ohtahara Syndrome, X-Linked 57
X-Linked Ohtahara Syndrome 43
Ohtahara Syndrome X-Linked 73
West Syndrome, X-Linked 57
X-Linked West Syndrome 43
West Syndrome X-Linked 73
Issx 43

Characteristics:

Orphanet epidemiological data:

58
x-linked spasticity-intellectual disability-epilepsy syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide);
infantile epileptic-dyskinetic encephalopathy
Inheritance: X-linked recessive; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
x-linked recessive

Miscellaneous:
onset of seizures in first months of life (usually 4 to 7 months)
dyskinesias occur in a subset of patients later than seizures (6 to 12 months)
males are most severely affected, but females can also be affected


HPO:

31
developmental and epileptic encephalopathy 1:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Developmental and Epileptic Encephalopathy 1

MedlinePlus Genetics : 43 Developmental and epileptic encephalopathy 1 (DEE1) is a seizure disorder characterized by a type of seizure known as infantile spasms. The spasms usually appear before the age of 1. Several types of spasms have been described, but the most commonly reported type involves bending at the waist and neck and extending the arms and legs (sometimes called a jackknife spasm). Each spasm lasts only seconds, but they occur in clusters several minutes long. Although individuals do not usually have spasms while they are sleeping, the spasms commonly occur just after awakening. Infantile spasms usually stop by age 5, but many children then develop other types of seizures that recur throughout their lives.Most babies with DEE1 have characteristic results on an electroencephalogram (EEG), a test used to measure the electrical activity of the brain. The EEG of these individuals typically shows an irregular pattern known as hypsarrhythmia, and this finding can help differentiate infantile spasms from other types of seizures.Early in life, babies with DEE1 stop developing normally and begin to lose skills they have acquired (developmental regression), such as sitting, rolling over, and babbling. Most affected individuals also have intellectual disability throughout their lives.

MalaCards based summary : Developmental and Epileptic Encephalopathy 1, also known as epileptic encephalopathy, early infantile, 1, is related to west syndrome and encephalopathy, and has symptoms including dyspnea, muscle spasticity and myoclonic seizures. An important gene associated with Developmental and Epileptic Encephalopathy 1 is ARX (Aristaless Related Homeobox), and among its related pathways/superpathways are Transmission across Chemical Synapses and Neuroscience. Affiliated tissues include brain, and related phenotypes are intellectual disability and spasticity

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by X-linked recessive inheritance of frequent tonic seizures or spasms beginning in infancy that has material basis in mutation in the ARX gene on chromosome Xp21.

OMIM® : 57 Developmental and epileptic encephalopathy-1 (DEE1) is a severe form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Approximately 75% of DEE1 patients progress to tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG (Kato et al., 2007). DEE1 is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from lissencephaly (LISX2; 300215) to Proud syndrome (300004) to infantile spasms without brain malformations (DEE) to syndromic (309510) and nonsyndromic (300419) mental retardation. Although males with ARX mutations are often more severely affected, female mutation carriers may also be affected (Kato et al., 2004; Wallerstein et al., 2008). (308350) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 1: A severe form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG.

Related Diseases for Developmental and Epileptic Encephalopathy 1

Diseases in the Developmental and Epileptic Encephalopathy family:

Developmental and Epileptic Encephalopathy 9 Developmental and Epileptic Encephalopathy 8
Developmental and Epileptic Encephalopathy 2 Developmental and Epileptic Encephalopathy 36
Developmental and Epileptic Encephalopathy 90 Developmental and Epileptic Encephalopathy 1
Developmental and Epileptic Encephalopathy 3 Developmental and Epileptic Encephalopathy 4
Developmental and Epileptic Encephalopathy 39 Developmental and Epileptic Encephalopathy 5
Developmental and Epileptic Encephalopathy 7 Developmental and Epileptic Encephalopathy 11
Developmental and Epileptic Encephalopathy 12 Developmental and Epileptic Encephalopathy 13
Developmental and Epileptic Encephalopathy 14 Developmental and Epileptic Encephalopathy 15
Developmental and Epileptic Encephalopathy 16 Developmental and Epileptic Encephalopathy 17
Developmental and Epileptic Encephalopathy 18 Developmental and Epileptic Encephalopathy 19
Developmental and Epileptic Encephalopathy 21 Developmental and Epileptic Encephalopathy 23
Developmental and Epileptic Encephalopathy 24 Developmental and Epileptic Encephalopathy 26
Developmental and Epileptic Encephalopathy 27 Developmental and Epileptic Encephalopathy 28
Developmental and Epileptic Encephalopathy 29 Developmental and Epileptic Encephalopathy 30
Developmental and Epileptic Encephalopathy 31 Developmental and Epileptic Encephalopathy 32
Developmental and Epileptic Encephalopathy 33 Developmental and Epileptic Encephalopathy 50
Developmental and Epileptic Encephalopathy 34 Developmental and Epileptic Encephalopathy 35
Developmental and Epileptic Encephalopathy 37 Developmental and Epileptic Encephalopathy 38
Developmental and Epileptic Encephalopathy 40 Developmental and Epileptic Encephalopathy 41
Developmental and Epileptic Encephalopathy 42 Developmental and Epileptic Encephalopathy 43
Developmental and Epileptic Encephalopathy 44 Developmental and Epileptic Encephalopathy 45
Developmental and Epileptic Encephalopathy 46 Developmental and Epileptic Encephalopathy 47
Developmental and Epileptic Encephalopathy 48 Developmental and Epileptic Encephalopathy 49
Developmental and Epileptic Encephalopathy 51 Developmental and Epileptic Encephalopathy 52
Developmental and Epileptic Encephalopathy 53 Developmental and Epileptic Encephalopathy 54
Developmental and Epileptic Encephalopathy 55 Developmental and Epileptic Encephalopathy 56
Developmental and Epileptic Encephalopathy 57 Developmental and Epileptic Encephalopathy 58
Developmental and Epileptic Encephalopathy 59 Developmental and Epileptic Encephalopathy 60
Developmental and Epileptic Encephalopathy 61 Developmental and Epileptic Encephalopathy 62
Developmental and Epileptic Encephalopathy 63 Developmental and Epileptic Encephalopathy 64
Developmental and Epileptic Encephalopathy 65 Developmental and Epileptic Encephalopathy 66
Developmental and Epileptic Encephalopathy 67 Developmental and Epileptic Encephalopathy 68
Developmental and Epileptic Encephalopathy 69 Developmental and Epileptic Encephalopathy 70
Developmental and Epileptic Encephalopathy 71 Developmental and Epileptic Encephalopathy 72
Developmental and Epileptic Encephalopathy 73 Developmental and Epileptic Encephalopathy 74
Developmental and Epileptic Encephalopathy 75 Developmental and Epileptic Encephalopathy 76
Developmental and Epileptic Encephalopathy 78 Developmental and Epileptic Encephalopathy 79
Developmental and Epileptic Encephalopathy 80 Developmental and Epileptic Encephalopathy 81
Developmental and Epileptic Encephalopathy 82 Developmental and Epileptic Encephalopathy 83
Developmental and Epileptic Encephalopathy 84 Developmental and Epileptic Encephalopathy 86
Developmental and Epileptic Encephalopathy 87 Developmental and Epileptic Encephalopathy 88
Developmental and Epileptic Encephalopathy 89

Diseases related to Developmental and Epileptic Encephalopathy 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 79)
# Related Disease Score Top Affiliating Genes
1 west syndrome 32.2 WWOX TBC1D24 STXBP1 SPTAN1 SLC25A22 SCN8A
2 encephalopathy 30.7 STXBP1 SPTAN1 SLC25A22 SCN8A SCN1A KCNQ2
3 microcephaly 30.5 WWOX TBC1D24 STXBP1 SCN1A GNAO1 CSRNP3
4 seizure disorder 30.4 TBC1D24 STXBP1 SPTAN1 SCN8A SCN1A KCNQ2
5 early infantile epileptic encephalopathy 29.6 WWOX TBC1D24 STXBP1 SPTAN1 SLC25A22 SCN8A
6 developmental and epileptic encephalopathy 2 11.4
7 developmental and epileptic encephalopathy 18 11.1
8 corpus callosum, agenesis of, with abnormal genitalia 10.9
9 lissencephaly, x-linked, 2 10.9
10 mental retardation, x-linked, with or without seizures, arx-related 10.9
11 developmental and epileptic encephalopathy 8 10.9
12 stxbp1 encephalopathy 10.5 STXBP1 CDKL5
13 myoclonic epilepsy of infancy 10.5 SCN8A SCN1A
14 developmental and epileptic encephalopathy 17 10.5 GNAO1 ARX
15 infantile epilepsy syndrome 10.5 STXBP1 CIZ1
16 landau-kleffner syndrome 10.5 STXBP1 SCN1A KCNQ2
17 partial motor epilepsy 10.4 SCN8A SCN1A KCNQ2
18 developmental and epileptic encephalopathy 4 10.4 STXBP1 SLC25A22 CDKL5
19 developmental and epileptic encephalopathy 13 10.4 SCN8A SCN1A
20 epilepsy with generalized tonic-clonic seizures 10.4 WWOX SCN1A CDKL5
21 photosensitive epilepsy 10.4 STXBP1 SCN1A KCNQ2
22 early onset absence epilepsy 10.4 SCN1A KCNQ2 CHRNA4
23 epilepsy, nocturnal frontal lobe, 1 10.4 SCN1A KCNQ2 CHRNA4
24 reflex epilepsy 10.4 SCN1A CHRNA4
25 developmental and epileptic encephalopathy 9 10.4 STXBP1 SCN1A KCNQ2 CDKL5
26 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 10.4 KCNQ2 CHRNA4
27 paroxysmal extreme pain disorder 10.4 SCN8A SCN1A KCNB1
28 adolescence-adult electroclinical syndrome 10.4 SCN1A KCNQ2 CHRNA4
29 febrile seizures 10.4 SCN8A SCN1A KCNQ2 HCN1
30 malignant migrating partial seizures of infancy 10.4 TBC1D24 SLC25A22 SCN1A
31 neuronal migration disorders 10.4 SCN1A ARX
32 progressive familial heart block, type ia 10.4 SCN8A SCN1A
33 developmental and epileptic encephalopathy 14 10.4 SCN8A SCN1A CHRNA4 CDKL5
34 familial febrile seizures 10.4 TBC1D24 SCN1A CHRNA4
35 febrile seizures, familial, 1 10.4 SCN1A CHRNA4
36 unverricht-lundborg syndrome 10.4 TBC1D24 SCN1A KCNQ2 CHRNA4
37 episodic ataxia 10.4 SCN8A SCN1A KCNQ2
38 aicardi syndrome 10.4 CDKL5 ARX
39 epilepsy, myoclonic juvenile 10.4 STXBP1 SCN1A KCNQ2 CHRNA4 CDKL5
40 low-grade astrocytoma 10.4 SCN8A SCN1A
41 autosomal dominant non-syndromic intellectual disability 10.3 TBC1D24 STXBP1 SCN8A EEF1A2
42 brugada syndrome 10.3 SCN8A SCN1A KCNQ2 KCNB1
43 aceruloplasminemia 10.3 STXBP1 SCN8A CIZ1
44 childhood electroclinical syndrome 10.3 STXBP1 SCN8A SCN1A KCNQ2 CHRNA4 CDKL5
45 benign familial neonatal epilepsy 10.3 STXBP1 SCN8A SCN1A KCNQ2 CHRNA4 CDKL5
46 rett syndrome 10.3 STXBP1 SCN1A EEF1A2 CDKL5
47 focal epilepsy 10.3 TBC1D24 SPTAN1 SCN8A SCN1A CHRNA4 CDKL5
48 trigeminal nerve disease 10.3 SCN8A SCN1A
49 undetermined early-onset epileptic encephalopathy 10.3 WWOX STXBP1 SCN8A KCNB1 HCN1 EEF1A2
50 autosomal dominant nocturnal frontal lobe epilepsy 10.3 STXBP1 SCN8A SCN1A KCNQ2 KCNH5 CHRNA4

Graphical network of the top 20 diseases related to Developmental and Epileptic Encephalopathy 1:



Diseases related to Developmental and Epileptic Encephalopathy 1

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 1

Human phenotypes related to Developmental and Epileptic Encephalopathy 1:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 spasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001257
3 muscle stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0003552
4 rigidity 58 31 hallmark (90%) Very frequent (99-80%) HP:0002063
5 status epilepticus 58 31 hallmark (90%) Very frequent (99-80%) HP:0002133
6 hemiplegia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002301
7 hypertonia 58 31 Very frequent (99-80%) HP:0001276
8 hyperreflexia 31 HP:0001347
9 dysphagia 31 HP:0002015
10 dyskinesia 31 HP:0100660
11 microcephaly 31 HP:0000252
12 dyspnea 31 HP:0002094
13 ventriculomegaly 31 HP:0002119
14 dystonia 31 HP:0001332
15 choreoathetosis 31 HP:0001266
16 muscular hypotonia of the trunk 31 HP:0008936
17 hypsarrhythmia 31 HP:0002521
18 epileptic encephalopathy 31 HP:0200134
19 generalized myoclonic seizure 31 HP:0002123

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
spasticity
hyperreflexia
hypertonia
dystonia
choreoathetosis
more
Respiratory:
dyspnea

Abdomen Gastrointestinal:
dysphagia

Head And Neck Head:
decreased head circumference

Clinical features from OMIM®:

308350 (Updated 05-Mar-2021)

UMLS symptoms related to Developmental and Epileptic Encephalopathy 1:


dyspnea, muscle spasticity, myoclonic seizures

MGI Mouse Phenotypes related to Developmental and Epileptic Encephalopathy 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.13 ARX CACNA2D2 CDKL5 CHRNA4 CIZ1 EEF1A2
2 growth/size/body region MP:0005378 9.97 ARX CACNA2D2 CIZ1 EEF1A2 GNAO1 HCN1
3 mortality/aging MP:0010768 9.8 ARFRP1 ARX CACNA2D2 CHRNA4 CSRNP3 EEF1A2
4 nervous system MP:0003631 9.5 ARX CACNA2D2 CDKL5 CHRNA4 EEF1A2 GNAO1

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 1

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 1

Genetic Tests for Developmental and Epileptic Encephalopathy 1

Genetic tests related to Developmental and Epileptic Encephalopathy 1:

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

Anatomical Context for Developmental and Epileptic Encephalopathy 1

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 1:

40
Brain

Publications for Developmental and Epileptic Encephalopathy 1

Articles related to Developmental and Epileptic Encephalopathy 1:

(show all 47)
# Title Authors PMID Year
1
Familial Ohtahara syndrome due to a novel ARX gene mutation. 6 57
21108397 2010
2
Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X). 6 57
19738637 2010
3
Expansion of the ARX spectrum. 57 6
18462864 2008
4
A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). 57 6
17668384 2007
5
Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus. 57 6
17664401 2007
6
X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX. 6 57
12177367 2002
7
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. 57 6
11889467 2002
8
X linked mental retardation and infantile spasms in a family: new clinical data and linkage to Xp11.4-Xp22.11. 57 6
10353782 1999
9
Confirmation of linkage in X-linked infantile spasms (West syndrome) and refinement of the disease locus to Xp21.3-Xp22.1. 6 57
10334471 1999
10
The X-linked infantile spasms syndrome (MIM 308350) maps to Xp11.4-Xpter in two pedigrees. 6 57
9307258 1997
11
Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies. 57
29314583 2018
12
Dravet syndrome and its mimics: Beyond SCN1A. 57
28880996 2017
13
Current understanding and neurobiology of epileptic encephalopathies. 57
26992889 2016
14
The Expanding Clinical Spectrum of Genetic Pediatric Epileptic Encephalopathies. 57
27544470 2016
15
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 6
23339110 2013
16
A novel de novo 27 bp duplication of the ARX gene, resulting from postzygotic mosaicism and leading to three severely affected males in two generations. 6
19606478 2009
17
Genetics of epilepsy syndromes starting in the first year of life. 57
19153375 2009
18
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 6
18487195 2008
19
Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene. 6
17490853 2007
20
MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions. 6
17480217 2007
21
Maternal mosaicism for mutations in the ARX gene in a family with X linked mental retardation. 6
16078051 2005
22
XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene. 6
15850492 2005
23
Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX. 6
15200506 2004
24
ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism. 6
15151512 2004
25
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. 57
14722918 2004
26
Elevated intraocular pressure associated with steroid treatment for infantile spasms. 57
12689911 2003
27
Brain cysts associated with mutation in the Aristaless related homeobox gene, ARX. 6
12640086 2003
28
Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation. 6
12376946 2002
29
Clinical study and haplotype analysis in two brothers with Partington syndrome. 6
12376938 2002
30
Re-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndrome. 6
12376949 2002
31
Localization of a gene for nonspecific X-linked mental retardation (MRX 76) to Xp22.3-Xp21.3. 6
12116222 2002
32
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. 6
11971879 2002
33
Increasing evidence for a new X-linked mental retardation/epilepsy gene localized to Xp21.3-Xp22.1. 57
10494100 1999
34
Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis. 6
10398246 1999
35
Evidence for a new X-linked mental retardation gene in Xp21-Xp22: clinical and molecular data in one family. 57
10190484 1999
36
Linkage analysis in three families with nonspecific X-linked mental retardation. 6
8826464 1996
37
Anterior basal encephalocele in the median cleft face syndrome. Comments on nosology and treatment. 6
2080994 1990
38
X-linked mental retardation with dystonic movements of the hands. 6
3177452 1988
39
X-linked mental retardation and infantile spasms in two brothers. 57
3758508 1986
40
Infantile spasms syndrome in monozygotic twins. 57
6254446 1980
41
Infantile spasms: case report of sex-linked inheritance. 57
892251 1977
42
Genetic study of infantile spasm with hypsarrhythmia. 57
870317 1977
43
A morphological classification of sincipital encephalomeningoceles. 6
5008734 1972
44
Long-term prognosis in infantile spasms: a follow-up report on 112 cases. 57
5457536 1970
45
Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations. 61
32042915 2020
46
ARX-associated infantile epileptic-dyskinetic encephalopathy with responsiveness to valproate for controlling seizures and reduced activity of muscle mitochondrial complex IV. 61
31324350 2019
47
Genes of early-onset epileptic encephalopathies: from genotype to phenotype. 61
22196487 2012

Variations for Developmental and Epileptic Encephalopathy 1

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 1:

6 (show top 50) (show all 3756)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ARX NM_139058.3(ARX):c.1058C>T (p.Pro353Leu) SNV Pathogenic 11188 rs104894743 X:25031054-25031054 X:25012937-25012937
2 ARX ARX, 1,517-BP DEL Deletion Pathogenic 11189
3 LOC109610631 NM_139058.3(ARX):c.309_341dup (p.Ala105_Ala115dup) Duplication Pathogenic 11202 rs1365611175 X:25031770-25031771 X:25013653-25013654
4 ARX NM_139058.3(ARX):c.1465del (p.Ala489fs) Deletion Pathogenic 157748 rs587783191 X:25023011-25023011 X:25004894-25004894
5 LOC109610631 NM_139058.3(ARX):c.435_461dup (p.Ala147_Ala155dup) Duplication Pathogenic 29963 rs1556056125 X:25031650-25031651 X:25013533-25013534
6 ARX NM_139058.3(ARX):c.81C>G (p.Tyr27Ter) SNV Pathogenic 29964 rs398122854 X:25033774-25033774 X:25015657-25015657
7 ARX NM_139058.3(ARX):c.1604T>A (p.Leu535Gln) SNV Pathogenic 29965 rs387906715 X:25022872-25022872 X:25004755-25004755
8 CACNA2D2 NM_006030.4(CACNA2D2):c.3119T>C (p.Leu1040Pro) SNV Pathogenic 40230 rs587776948 3:50402595-50402595 3:50365164-50365164
9 ARX NM_139058.3(ARX):c.1002_1007delinsTGTACCA (p.Phe335fs) Indel Pathogenic 224076 rs869312662 X:25031105-25031110 X:25012988-25012993
10 KCNQ2 NM_172107.4(KCNQ2):c.1160del (p.Pro387fs) Deletion Pathogenic 205929 rs796052657 20:62059777-62059777 20:63428424-63428424
11 KCNQ2 NM_172107.4(KCNQ2):c.1386_1387TG[1] (p.Val463fs) Microsatellite Pathogenic 242008 rs878855236 20:62046392-62046393 20:63415039-63415040
12 SCN1A NM_001165963.4(SCN1A):c.4282G>T (p.Val1428Phe) SNV Pathogenic 238603 rs878854263 2:166858984-166858984 2:166002474-166002474
13 STXBP1 NM_003165.4(STXBP1):c.798T>G (p.Tyr266Ter) SNV Pathogenic 239512 rs751170778 9:130430362-130430362 9:127668083-127668083
14 WWOX NM_016373.4(WWOX):c.779C>G (p.Ser260Ter) SNV Pathogenic 241104 rs878855021 16:78458940-78458940 16:78425043-78425043
15 SCN8A NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg) SNV Pathogenic 207119 rs796053216 12:52184185-52184185 12:51790401-51790401
16 KCNQ2 NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp) SNV Pathogenic 205915 rs773171451 20:62044888-62044888 20:63413535-63413535
17 SCN1A NM_001165963.4(SCN1A):c.4907G>A (p.Arg1636Gln) SNV Pathogenic 68557 rs121917995 2:166848878-166848878 2:165992368-165992368
18 KCNQ2 NM_172107.4(KCNQ2):c.1342C>T (p.Arg448Ter) SNV Pathogenic 21762 rs118192226 20:62046439-62046439 20:63415086-63415086
19 SCN1A NM_001165963.4(SCN1A):c.3716_3717AT[6] (p.Asp1243fs) Microsatellite Pathogenic 206910 rs796053072 2:166868772-166868773 2:166012262-166012263
20 STXBP1 NM_003165.4(STXBP1):c.1434G>A (p.Trp478Ter) SNV Pathogenic 407777 rs1060501722 9:130440784-130440784 9:127678505-127678505
21 CACNA2D2 NM_006030.4(CACNA2D2):c.485_486del (p.Tyr161_Tyr162insTer) Deletion Pathogenic 411003 rs1060503108 3:50425023-50425024 3:50387592-50387593
22 SCN1A NM_001165963.4(SCN1A):c.3631dup (p.Cys1211fs) Duplication Pathogenic 408920 rs1060502182 2:166870327-166870328 2:166013817-166013818
23 KCNQ2 NM_172107.4(KCNQ2):c.868G>A (p.Gly290Ser) SNV Pathogenic 369768 rs1057516098 20:62071010-62071010 20:63439657-63439657
24 SCN1A NM_001165963.4(SCN1A):c.5765T>G (p.Ile1922Ser) SNV Pathogenic 408935 rs121917981 2:166848020-166848020 2:165991510-165991510
25 SCN1A NM_001165963.4(SCN1A):c.312del (p.Thr105fs) Deletion Pathogenic 408929 rs1060502187 2:166915151-166915151 2:166058641-166058641
26 STXBP1 NM_003165.4(STXBP1):c.265del (p.Ser89fs) Deletion Pathogenic 407778 rs1060501723 9:130422327-130422327 9:127660048-127660048
27 SCN1A NM_001165963.4(SCN1A):c.4236del (p.Lys1412_Val1413insTer) Deletion Pathogenic 408921 rs1060502183 2:166859030-166859030 2:166002520-166002520
28 KCNQ2 NM_172107.4(KCNQ2):c.881C>T (p.Ala294Val) SNV Pathogenic 205886 20:62070997-62070997 20:63439644-63439644
29 SCN1A NM_001165963.4(SCN1A):c.4061G>T (p.Cys1354Phe) SNV Pathogenic 408922 rs1057521537 2:166859205-166859205 2:166002695-166002695
30 SCN1A NM_001165963.4(SCN1A):c.3822T>G (p.Tyr1274Ter) SNV Pathogenic 408930 rs1060502188 2:166868676-166868676 2:166012166-166012166
31 STXBP1 NM_003165.4(STXBP1):c.847G>A (p.Glu283Lys) SNV Pathogenic 127076 rs587777310 9:130430411-130430411 9:127668132-127668132
32 SCN1A NM_001165963.4(SCN1A):c.938_941del (p.Asp313fs) Deletion Pathogenic 461285 rs1553549483 2:166908252-166908255 2:166051742-166051745
33 SCN1A NM_001165963.4(SCN1A):c.2669T>C (p.Leu890Pro) SNV Pathogenic 461256 rs1553541473 2:166894563-166894563 2:166038053-166038053
34 SCN1A NM_001165963.4(SCN1A):c.566del (p.Pro189fs) Deletion Pathogenic 461282 rs1553551385 2:166911184-166911184 2:166054674-166054674
35 KCNQ2 NM_172107.4(KCNQ2):c.915C>G (p.Phe305Leu) SNV Pathogenic 461423 rs775918190 20:62070963-62070963 20:63439610-63439610
36 KCNQ2 NM_172107.4(KCNQ2):c.1525+1G>A SNV Pathogenic 21763 rs118192228 20:62046255-62046255 20:63414902-63414902
37 SCN1A NM_001165963.4(SCN1A):c.454dup (p.Asp152fs) Duplication Pathogenic 461273 rs1553552319 2:166912939-166912940 2:166056429-166056430
38 SCN1A NM_001165963.4(SCN1A):c.3082del (p.Arg1028fs) Deletion Pathogenic 461260 rs1553540389 2:166892905-166892905 2:166036395-166036395
39 KCNQ2 NC_000020.11:g.(?_63419599)_(63439728_?)del Deletion Pathogenic 461212 20:63419599-63439728
40 TBC1D24 NC_000016.10:g.(?_2496129)_(2500978_?)del Deletion Pathogenic 474299 16:2546130-2550979 16:2496129-2500978
41 SCN1A NM_001165963.4(SCN1A):c.3431_3432del (p.Lys1144fs) Deletion Pathogenic 461263 rs1553534296 2:166872235-166872236 2:166015725-166015726
42 SCN1A-AS1 NC_000002.12:g.(?_165874735)_(166311776_?)del Deletion Pathogenic 471073 2:166731245-167168286 2:165874735-166311776
43 KCNQ2 NM_172107.4(KCNQ2):c.917C>T (p.Ala306Val) SNV Pathogenic 219235 rs864321707 20:62070961-62070961 20:63439608-63439608
44 SCN1A NM_001165963.4(SCN1A):c.1506_1510GAAAA[1] (p.Arg504fs) Microsatellite Pathogenic 461242 rs1553545660 2:166901700-166901704 2:166045190-166045194
45 KCNQ2-AS1 NC_000020.11:g.(?_63444639)_(63528152_?)del Deletion Pathogenic 461213 20:63444639-63528152
46 SCN1A NM_001165963.4(SCN1A):c.2947G>A (p.Val983Ile) SNV Pathogenic 461261 rs1553540503 2:166893040-166893040 2:166036530-166036530
47 SCN1A NM_001165963.4(SCN1A):c.2261G>A (p.Trp754Ter) SNV Pathogenic 461248 rs794726743 2:166897895-166897895 2:166041385-166041385
48 SCN1A NM_001165963.4(SCN1A):c.1931_1939delinsA (p.Thr644fs) Indel Pathogenic 461246 rs1553544579 2:166900283-166900291 2:166043773-166043781
49 SCN1A NM_006920.6(SCN1A):c.4306-1G>A SNV Pathogenic 461271 rs1553522517 2:166854686-166854686 2:165998176-165998176
50 WWOX Duplication Pathogenic 473015 16:78318746-78386940

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 1:

73
# Symbol AA change Variation ID SNP ID
1 ARX p.Pro353Leu VAR_015180 rs104894743

Expression for Developmental and Epileptic Encephalopathy 1

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 1.

Pathways for Developmental and Epileptic Encephalopathy 1

Pathways related to Developmental and Epileptic Encephalopathy 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.35 STXBP1 KCNQ2 KCNH5 KCNB1 HCN1 CHRNA4
2 12.25 STXBP1 SCN8A SCN1A KCNQ2 GNAO1
3
Show member pathways
11.73 KCNQ2 KCNH5 KCNB1 HCN1
4
Show member pathways
11.55 SPTAN1 SCN8A SCN1A KCNQ2
5
Show member pathways
11.42 SCN8A SCN1A CACNA2D2
6 10.4 SPTAN1 SCN8A SCN1A KCNQ2

GO Terms for Developmental and Epileptic Encephalopathy 1

Cellular components related to Developmental and Epileptic Encephalopathy 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.07 WWOX TBC1D24 STXBP1 SCN8A SCN1A KCNQ2
2 synapse GO:0045202 9.8 TBC1D24 KCNQ2 KCNB1 EEF1A2 CHRNA4 CDKL5
3 axon GO:0030424 9.55 STXBP1 SCN8A SCN1A KCNB1 HCN1
4 voltage-gated sodium channel complex GO:0001518 9.37 SCN8A SCN1A
5 axon initial segment GO:0043194 9.13 SCN8A SCN1A KCNQ2
6 node of Ranvier GO:0033268 8.8 SCN8A SCN1A KCNQ2

Biological processes related to Developmental and Epileptic Encephalopathy 1 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.77 SCN8A SCN1A KCNQ2 KCNB1 CHRNA4
2 potassium ion transport GO:0006813 9.73 KCNQ2 KCNH5 KCNB1 HCN1
3 potassium ion transmembrane transport GO:0071805 9.71 KCNQ2 KCNH5 KCNB1 HCN1
4 transmembrane transport GO:0055085 9.7 SLC25A22 SCN8A SCN1A KCNQ2 KCNH5 KCNB1
5 sodium ion transport GO:0006814 9.69 SCN8A SCN1A HCN1
6 sodium ion transmembrane transport GO:0035725 9.63 SCN8A SCN1A HCN1
7 regulation of membrane potential GO:0042391 9.62 SCN1A KCNH5 HCN1 CHRNA4
8 ion transport GO:0006811 9.61 SLC25A22 SCN8A SCN1A KCNQ2 KCNH5 KCNB1
9 positive regulation of calcium ion-dependent exocytosis GO:0045956 9.49 STXBP1 KCNB1
10 membrane depolarization during action potential GO:0086010 9.48 SCN8A SCN1A
11 action potential GO:0001508 9.43 SCN1A KCNB1 CHRNA4
12 regulation of ion transmembrane transport GO:0034765 9.17 SCN8A SCN1A KCNQ2 KCNH5 KCNB1 HCN1

Molecular functions related to Developmental and Epileptic Encephalopathy 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 potassium channel activity GO:0005267 9.56 KCNQ2 KCNH5 KCNB1 HCN1
2 sodium channel activity GO:0005272 9.54 SCN8A SCN1A HCN1
3 voltage-gated sodium channel activity GO:0005248 9.5 SCN8A SCN1A HCN1
4 ion channel activity GO:0005216 9.5 SCN8A SCN1A KCNQ2 KCNH5 KCNB1 HCN1
5 voltage-gated potassium channel activity GO:0005249 9.46 KCNQ2 KCNH5 KCNB1 HCN1
6 voltage-gated ion channel activity GO:0005244 9.17 SCN8A SCN1A KCNQ2 KCNH5 KCNB1 HCN1

Sources for Developmental and Epileptic Encephalopathy 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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