EIEE1
MCID: EPL037
MIFTS: 52

Epileptic Encephalopathy, Early Infantile, 1 (EIEE1)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 1

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 1:

Name: Epileptic Encephalopathy, Early Infantile, 1 56 25 73 29 13 6 71
Infantile Epileptic-Dyskinetic Encephalopathy 56 25 58 73
Early Infantile Epileptic Encephalopathy 1 12 25 15
Eiee1 56 25 73
Issx1 56 25 73
X-Linked Infantile Spasm Syndrome 1 12 25
X-Linked Infantile Spasm Syndrome 25 71
Xmesid 56 73
Myoclonic Epilepsy X-Linked with Intellectual Disability and Spasticity 73
X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome 58
Encephalopathy, Epileptic, Early Infantile, Type 1 39
Infantile Spasm Syndrome, X-Linked 1; Issx1 56
Early Infantile Epileptic Encephalopathy-1 25
Infantile Spasm Syndrome, X-Linked 1 56
Infantile Spasm Syndrome X-Linked 1 73
Ohtahara Syndrome, X-Linked 56
X-Linked Ohtahara Syndrome 25
Ohtahara Syndrome X-Linked 73
West Syndrome, X-Linked 56
X-Linked West Syndrome 25
West Syndrome X-Linked 73
Issx 25

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:

56
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
epileptic encephalopathy, early infantile, 1:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Epileptic Encephalopathy, Early Infantile, 1

Genetics Home Reference : 25 Early infantile epileptic encephalopathy 1 (EIEE1) 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 EIEE1 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. Because of the recurrent seizures, babies with EIEE1 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 : Epileptic Encephalopathy, Early Infantile, 1, also known as infantile epileptic-dyskinetic encephalopathy, is related to epileptic encephalopathy, early infantile, 17 and encephalopathy, and has symptoms including dyspnea, muscle spasticity and myoclonic seizures. An important gene associated with Epileptic Encephalopathy, Early Infantile, 1 is ARX (Aristaless Related Homeobox), and among its related pathways/superpathways are Neuroscience and GABAergic synapse. Affiliated tissues include brain and testes, and related phenotypes are intellectual disability and spasticity

Disease Ontology : 12 An early infantile epileptic encephalopathy characterized by X-linked recessive inheritance that has material basis in mutation in the ARX gene on chromosome Xp21.

OMIM : 56 Early infantile epileptic encephalopathy is a severe form of epilepsy first reported by Ohtahara et al. (1976). It is 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 EIEE patients progress to 'West syndrome,' which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG (Kato et al., 2007). Deprez et al. (2009) reviewed the genetics of epilepsy syndromes starting in the first year of life and included a diagnostic algorithm. EIEE1 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 (EIEE1) 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)

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 Epileptic Encephalopathy, Early Infantile, 1

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 Epileptic Encephalopathy, Early Infantile, 82
Epileptic Encephalopathy, Early Infantile, 83 Epileptic Encephalopathy, Early Infantile, 84
Epileptic Encephalopathy, Early Infantile, 86 Arx-Related Epileptic Encephalopathy

Diseases related to Epileptic Encephalopathy, Early Infantile, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 97)
# Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, early infantile, 17 32.1 GNAO1 ARX
2 encephalopathy 30.9 SCN1A GNAO1 ARX
3 seizure disorder 30.8 SCN1A KCNQ2
4 epileptic encephalopathy, early infantile, 6 30.7 TBC1D24 SCN1A PLCB1 KCNQ2 GABRB3 CACNA1A
5 west syndrome 30.1 TBC1D24 ST3GAL3 SCN1A PLCB1 LOC109610631 KCNQ2
6 dystonia 30.1 TBC1D24 SYNJ1 KCNQ2 GABRB3 CACNA1A ARX
7 epilepsy 27.6 WWOX TBC1D24 SZT2 ST3GAL3 SCN1A PLCB1
8 early infantile epileptic encephalopathy 27.4 WWOX TBC1D24 SZT2 ST3GAL3 SCN1A PLCB1
9 epileptic encephalopathy, early infantile, 15 11.9
10 corpus callosum, agenesis of, with abnormal genitalia 11.0
11 epileptic encephalopathy, early infantile, 9 11.0
12 lissencephaly, x-linked, 2 11.0
13 mental retardation, x-linked, with or without seizures, arx-related 11.0
14 epileptic encephalopathy, early infantile, 8 11.0
15 epileptic encephalopathy, early infantile, 2 11.0
16 congenital disorder of glycosylation, type iim 11.0
17 epileptic encephalopathy, early infantile, 85, with or without midline brain defects 11.0
18 partington x-linked mental retardation syndrome 11.0
19 epileptic encephalopathy, early infantile, 3 11.0
20 microcephaly, seizures, and developmental delay 11.0
21 epileptic encephalopathy, early infantile, 11 11.0
22 epileptic encephalopathy, early infantile, 14 11.0
23 epileptic encephalopathy, early infantile, 16 11.0
24 epileptic encephalopathy, early infantile, 18 11.0
25 epileptic encephalopathy, early infantile, 27 11.0
26 epileptic encephalopathy, early infantile, 37 11.0
27 epileptic encephalopathy, early infantile, 47 11.0
28 epileptic encephalopathy, early infantile, 48 11.0
29 epileptic encephalopathy, early infantile, 49 11.0
30 epileptic encephalopathy, early infantile, 52 11.0
31 epileptic encephalopathy, early infantile, 53 11.0
32 epileptic encephalopathy, early infantile, 55 11.0
33 epileptic encephalopathy, early infantile, 56 11.0
34 epileptic encephalopathy, early infantile, 58 11.0
35 epileptic encephalopathy, early infantile, 64 11.0
36 epileptic encephalopathy, early infantile, 65 11.0
37 epileptic encephalopathy, early infantile, 68 11.0
38 epileptic encephalopathy, early infantile, 69 11.0
39 epileptic encephalopathy, early infantile, 75 11.0
40 epileptic encephalopathy, early infantile, 76 11.0
41 epileptic encephalopathy, early infantile, 77 11.0
42 epileptic encephalopathy, early infantile, 78 11.0
43 epileptic encephalopathy, early infantile, 79 11.0
44 epileptic encephalopathy, early infantile, 80 11.0
45 epileptic encephalopathy, early infantile, 81 11.0
46 epileptic encephalopathy, early infantile, 82 11.0
47 epileptic encephalopathy, early infantile, 83 11.0
48 epileptic encephalopathy, early infantile, 84 11.0
49 ohtahara syndrome 10.5 LOC109610631 ARX
50 myoclonic epilepsy, familial infantile 10.4 TBC1D24 CCNF

Graphical network of the top 20 diseases related to Epileptic Encephalopathy, Early Infantile, 1:



Diseases related to Epileptic Encephalopathy, Early Infantile, 1

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 1

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 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 dyskinesia 31 HP:0100660
9 microcephaly 31 HP:0000252
10 dysphagia 31 HP:0002015
11 dyspnea 31 HP:0002094
12 hyperreflexia 31 HP:0001347
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:

56
Neurologic Central Nervous System:
hypertonia
spasticity
hyperreflexia
dystonia
choreoathetosis
more
Respiratory:
dyspnea

Abdomen Gastrointestinal:
dysphagia

Head And Neck Head:
decreased head circumference

Clinical features from OMIM:

308350

UMLS symptoms related to Epileptic Encephalopathy, Early Infantile, 1:


dyspnea, muscle spasticity, myoclonic seizures

MGI Mouse Phenotypes related to Epileptic Encephalopathy, Early Infantile, 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.07 ARX CACNA1A CSNK1E GABRB3 GNAO1 KCNQ2
2 growth/size/body region MP:0005378 9.97 ARX CACNA1A CCNF GABRB3 GNAO1 KCNQ2
3 mortality/aging MP:0010768 9.8 ARX CACNA1A CCNF GABRB3 GNAO1 KCNQ2
4 nervous system MP:0003631 9.5 ARX CACNA1A CCNF CSNK1E GABRB3 GNAO1

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 1

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 1

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 1

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 1:

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

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 1

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 1:

40
Brain, Testes

Publications for Epileptic Encephalopathy, Early Infantile, 1

Articles related to Epileptic Encephalopathy, Early Infantile, 1:

(show all 43)
# Title Authors PMID Year
1
Familial Ohtahara syndrome due to a novel ARX gene mutation. 6 56
21108397 2010
2
Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X). 6 56
19738637 2010
3
Expansion of the ARX spectrum. 56 6
18462864 2008
4
A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). 56 6
17668384 2007
5
Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus. 56 6
17664401 2007
6
X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX. 56 6
12177367 2002
7
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. 56 6
11889467 2002
8
X linked mental retardation and infantile spasms in a family: new clinical data and linkage to Xp11.4-Xp22.11. 6 56
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 56
10334471 1999
10
The X-linked infantile spasms syndrome (MIM 308350) maps to Xp11.4-Xpter in two pedigrees. 6 56
9307258 1997
11
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 6
23339110 2013
12
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
13
Genetics of epilepsy syndromes starting in the first year of life. 56
19153375 2009
14
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 6
18487195 2008
15
Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene. 6
17490853 2007
16
MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions. 6
17480217 2007
17
Maternal mosaicism for mutations in the ARX gene in a family with X linked mental retardation. 6
16078051 2005
18
XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene. 6
15850492 2005
19
Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX. 6
15200506 2004
20
ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism. 6
15151512 2004
21
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. 56
14722918 2004
22
Elevated intraocular pressure associated with steroid treatment for infantile spasms. 56
12689911 2003
23
Brain cysts associated with mutation in the Aristaless related homeobox gene, ARX. 6
12640086 2003
24
Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation. 6
12376946 2002
25
Clinical study and haplotype analysis in two brothers with Partington syndrome. 6
12376938 2002
26
Re-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndrome. 6
12376949 2002
27
Localization of a gene for nonspecific X-linked mental retardation (MRX 76) to Xp22.3-Xp21.3. 6
12116222 2002
28
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. 6
11971879 2002
29
Increasing evidence for a new X-linked mental retardation/epilepsy gene localized to Xp21.3-Xp22.1. 56
10494100 1999
30
Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis. 6
10398246 1999
31
Evidence for a new X-linked mental retardation gene in Xp21-Xp22: clinical and molecular data in one family. 56
10190484 1999
32
Linkage analysis in three families with nonspecific X-linked mental retardation. 6
8826464 1996
33
Anterior basal encephalocele in the median cleft face syndrome. Comments on nosology and treatment. 6
2080994 1990
34
X-linked mental retardation with dystonic movements of the hands. 6
3177452 1988
35
X-linked mental retardation and infantile spasms in two brothers. 56
3758508 1986
36
Infantile spasms syndrome in monozygotic twins. 56
6254446 1980
37
Infantile spasms: case report of sex-linked inheritance. 56
892251 1977
38
Genetic study of infantile spasm with hypsarrhythmia. 56
870317 1977
39
A morphological classification of sincipital encephalomeningoceles. 6
5008734 1972
40
Long-term prognosis in infantile spasms: a follow-up report on 112 cases. 56
5457536 1970
41
Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations. 61
32042915 2020
42
ARX-associated infantile epileptic-dyskinetic encephalopathy with responsiveness to valproate for controlling seizures and reduced activity of muscle mitochondrial complex IV. 61
31324350 2019
43
Genes of early-onset epileptic encephalopathies: from genotype to phenotype. 61
22196487 2012

Variations for Epileptic Encephalopathy, Early Infantile, 1

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 1:

6 (show top 50) (show all 542) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 WWOX duplication Pathogenic 473015 16:78318746-78386940
2 TBC1D24 NC_000016.10:g.(?_2496129)_(2500978_?)deldeletion Pathogenic 474299 16:2546130-2550979 16:2496129-2500978
3 ARX NM_139058.3(ARX):c.426_458dup (p.Gly143_Ala153dup)duplication Pathogenic 473011 rs1556056154 X:25031653-25031654 X:25013536-25013537
4 WWOX NC_000016.10:g.(?_78432468)_(78432772_?)deldeletion Pathogenic 540247 16:78466365-78466669 16:78432468-78432772
5 TBC1D24 NM_001199107.2(TBC1D24):c.172del (p.Arg57_Leu58insTer)deletion Pathogenic 541316 rs1555501140 16:2546320-2546320 16:2496319-2496319
6 WWOX NC_000016.10:g.(?_78386840)_(78386968_?)deldeletion Pathogenic 583631 16:78420737-78420865 16:78386840-78386968
7 WWOX NC_000016.10:g.(?_78164163)_(78164309_?)deldeletion Pathogenic 584160 16:78198060-78198206 16:78164163-78164309
8 TBC1D24 NM_001199107.2(TBC1D24):c.1131C>G (p.Tyr377Ter)SNV Pathogenic 569501 rs1567413218 16:2548386-2548386 16:2498385-2498385
9 CSNK1E NM_152221.3(CSNK1E):c.885+1G>ASNV Pathogenic 590290 rs1569077009 22:38694790-38694790 22:38298785-38298785
10 WWOX NC_000016.10:g.(?_79211588)_(79211816_?)deldeletion Pathogenic 657908 16:79245485-79245713 16:79211588-79211816
11 WWOX NM_016373.4(WWOX):c.107+1G>ASNV Pathogenic 689796 16:78133783-78133783 16:78099886-78099886
12 TBC1D24 NM_001199107.2(TBC1D24):c.1153C>T (p.Gln385Ter)SNV Pathogenic 852959 16:2549368-2549368 16:2499367-2499367
13 WWOX NM_016373.4(WWOX):c.705dup (p.His236fs)duplication Pathogenic 803276 16:78458862-78458863 16:78424965-78424966
14 ARX NM_139058.3(ARX):c.1414_1428del (p.Arg472_Phe476del)deletion Pathogenic 803781 X:25025248-25025262 X:25007131-25007145
15 ARX NM_139058.3(ARX):c.1369_1391del (p.Gly457fs)deletion Pathogenic 803782 X:25025285-25025307 X:25007168-25007190
16 WWOX NC_000016.10:g.(?_78099759)_(78099909_?)deldeletion Pathogenic 831561 16:78133656-78133806
17 WWOX NC_000016.10:g.(?_78099759)_(78115174_?)deldeletion Pathogenic 830545 16:78133656-78149071
18 WWOX NC_000016.10:g.(?_78099759)_(78432772_?)deldeletion Pathogenic 832849 16:78133656-78466669
19 WWOX NC_000016.10:g.(?_78278583)_(78386968_?)deldeletion Pathogenic 833164 16:78312480-78420865
20 ARX NM_139058.3(ARX):c.1058C>T (p.Pro353Leu)SNV Pathogenic 11188 rs104894743 X:25031054-25031054 X:25012937-25012937
21 ARX ARX, 1,517-BP DELdeletion Pathogenic 11189
22 ARX NM_139058.3(ARX):c.309_341dup (p.Ala105_Ala115dup)duplication Pathogenic 11202 rs1365611175 X:25031770-25031771 X:25013653-25013654
23 KCNQ2 NM_172107.4(KCNQ2):c.584_593delinsA (p.Ser195_Arg198delinsTer)indel Pathogenic 21790 rs118192197 20:62076109-62076118 20:63444756-63444765
24 ARX NM_139058.3(ARX):c.435_461dup (p.Ala147_Ala155dup)duplication Pathogenic 29963 rs1556056125 X:25031650-25031651 X:25013533-25013534
25 ARX NM_139058.3(ARX):c.81C>G (p.Tyr27Ter)SNV Pathogenic 29964 rs398122854 X:25033774-25033774 X:25015657-25015657
26 ARX NM_139058.3(ARX):c.1604T>A (p.Leu535Gln)SNV Pathogenic 29965 rs387906715 X:25022872-25022872 X:25004755-25004755
27 WWOX NC_000016.10:g.(?_78424850)_(78432772_?)deldeletion Pathogenic 832198 16:78458747-78466669
28 ARX NM_139058.3(ARX):c.306_308GGC[17] (p.Ala109_Ala115dup)short repeat Pathogenic 11186 rs387906492 X:25031776-25031777 X:25013659-25013660
29 TBC1D24 NM_001199107.2(TBC1D24):c.1008del (p.His336fs)deletion Pathogenic 91398 rs398122967 16:2548263-2548263 16:2498262-2498262
30 ARX NM_139058.3(ARX):c.441_464dup (p.Ala148_Ala155dup)duplication Pathogenic 96455 rs398124510 X:25031647-25031648 X:25013530-25013531
31 WWOX NM_016373.4(WWOX):c.160C>T (p.Arg54Ter)SNV Pathogenic 120325 rs587777248 16:78142372-78142372 16:78108475-78108475
32 ARX NM_139058.3(ARX):c.1465del (p.Ala489fs)deletion Pathogenic 157748 rs587783191 X:25023011-25023011 X:25004894-25004894
33 ARX NM_139058.3(ARX):c.1002_1007delinsTGTACCA (p.Phe335fs)indel Pathogenic 224076 rs869312662 X:25031105-25031110 X:25012988-25012993
34 ARX NM_139058.3(ARX):c.306_308GGC[18] (p.Ala108_Ala115dup)short repeat Pathogenic 210327 rs387906492 X:25031776-25031777 X:25013659-25013660
35 WWOX NM_016373.4(WWOX):c.779C>G (p.Ser260Ter)SNV Pathogenic 241104 rs878855021 16:78458940-78458940 16:78425043-78425043
36 WWOX NM_016373.4(WWOX):c.790C>T (p.Arg264Ter)SNV Pathogenic 241105 rs756762196 16:78458951-78458951 16:78425054-78425054
37 TBC1D24 NM_001199107.2(TBC1D24):c.121C>T (p.Gln41Ter)SNV Pathogenic 391687 rs1057524191 16:2546270-2546270 16:2496269-2496269
38 TBC1D24 NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys)SNV Pathogenic/Likely pathogenic 91395 rs398122965 16:2546873-2546873 16:2496872-2496872
39 WWOX NM_016373.4(WWOX):c.583G>T (p.Glu195Ter)SNV Pathogenic/Likely pathogenic 568364 rs1567542020 16:78420823-78420823 16:78386926-78386926
40 WWOX NM_016373.4(WWOX):c.214C>T (p.Gln72Ter)SNV Pathogenic/Likely pathogenic 449920 rs201008667 16:78143716-78143716 16:78109819-78109819
41 WWOX NM_016373.4(WWOX):c.409+1G>CSNV Likely pathogenic 410092 rs1060502727 16:78149052-78149052 16:78115155-78115155
42 TBC1D24 NM_001199107.2(TBC1D24):c.1499C>T (p.Ala500Val)SNV Likely pathogenic 419296 rs564477999 16:2550465-2550465 16:2500464-2500464
43 WWOX NC_000016.10:g.(?_78424850)_(78425075_?)deldeletion Likely pathogenic 473016 16:78424850-78425075
44 ARX NM_139058.3(ARX):c.1039T>G (p.Phe347Val)SNV Likely pathogenic 495255 rs1556054888 X:25031073-25031073 X:25012956-25012956
45 WWOX NC_000016.9:g.(?_78458747)_(78466669_?)dupduplication Likely pathogenic 583590 16:78458747-78466669 16:78424850-78432772
46 GNAO1 NM_020988.3(GNAO1):c.119G>T (p.Gly40Val)SNV Likely pathogenic 587482 rs886041766 16:56226486-56226486 16:56192574-56192574
47 WWOX NC_000016.10:g.(?_78386840)_(78432772_?)deldeletion Likely pathogenic 584296 16:78420737-78466669 16:78386840-78432772
48 TBC1D24 NM_001199107.2(TBC1D24):c.983+2T>CSNV Likely pathogenic 658011 16:2547730-2547730 16:2497729-2497729
49 SYNJ1 NM_203446.2(SYNJ1):c.1717C>T (p.Arg573Ter)SNV Likely pathogenic 623235 rs1569075471 21:34045776-34045776 21:32673466-32673466
50 ARX NM_139058.3(ARX):c.84C>A (p.Cys28Ter)SNV Likely pathogenic 635040 rs932485786 X:25033771-25033771 X:25015654-25015654

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 1:

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

Expression for Epileptic Encephalopathy, Early Infantile, 1

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 1.

Pathways for Epileptic Encephalopathy, Early Infantile, 1

GO Terms for Epileptic Encephalopathy, Early Infantile, 1

Cellular components related to Epileptic Encephalopathy, Early Infantile, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon initial segment GO:0043194 8.96 SCN1A KCNQ2
2 node of Ranvier GO:0033268 8.62 SCN1A KCNQ2

Biological processes related to Epileptic Encephalopathy, Early Infantile, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol metabolic process GO:0046488 9.16 SYNJ1 PLCB1
2 regulation of membrane potential GO:0042391 9.13 SCN1A GABRB3 CACNA1A
3 chemical synaptic transmission GO:0007268 8.92 NRXN2 KCNQ2 GABRB3 CACNA1A

Molecular functions related to Epileptic Encephalopathy, Early Infantile, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 8.92 SCN1A KCNQ2 GABRB3 CACNA1A

Sources for Epileptic Encephalopathy, Early Infantile, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
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