EIEE1
MCID: EPL037
MIFTS: 46

Epileptic Encephalopathy, Early Infantile, 1 (EIEE1)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic 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 58 26 76 30 13 6 74
Infantile Epileptic-Dyskinetic Encephalopathy 58 26 60 76
Early Infantile Epileptic Encephalopathy 1 12 26 15
Eiee1 58 26 76
Issx1 58 26 76
X-Linked Infantile Spasm Syndrome 1 12 26
X-Linked Infantile Spasm Syndrome 26 74
Xmesid 58 76
Myoclonic Epilepsy X-Linked with Intellectual Disability and Spasticity 76
X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome 60
Encephalopathy, Epileptic, Early Infantile, Type 1 41
Infantile Spasm Syndrome, X-Linked 1; Issx1 58
Early Infantile Epileptic Encephalopathy-1 26
Infantile Spasm Syndrome, X-Linked 1 58
Infantile Spasm Syndrome X-Linked 1 76
Ohtahara Syndrome, X-Linked 58
X-Linked Ohtahara Syndrome 26
Ohtahara Syndrome X-Linked 76
West Syndrome, X-Linked 58
X-Linked West Syndrome 26
West Syndrome X-Linked 76
Issx 26

Characteristics:

Orphanet epidemiological data:

60
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:

58
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:

33
epileptic encephalopathy, early infantile, 1:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Epileptic Encephalopathy, Early Infantile, 1

OMIM : 58 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)

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 1, also known as infantile epileptic-dyskinetic encephalopathy, is related to west syndrome and epileptic encephalopathy, early infantile, 6, 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 Dopamine-DARPP32 Feedback onto cAMP Pathway and Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling. Affiliated tissues include brain, liver and eye, 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.

Genetics Home Reference : 26 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.

UniProtKB/Swiss-Prot : 76 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

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

(show all 50)
# Related Disease Score Top Affiliating Genes
1 west syndrome 31.6 ARX KCNQ2 PLCB1 TBC1D24
2 epileptic encephalopathy, early infantile, 6 31.2 GABRB3 KCNQ2 TBC1D24
3 epilepsy 29.7 ARX GABRB3 KCNQ2 TBC1D24
4 epileptic encephalopathy, early infantile, 15 11.4
5 corpus callosum, agenesis of, with abnormal genitalia 10.9
6 epileptic encephalopathy, early infantile, 9 10.9
7 lissencephaly, x-linked, 2 10.9
8 mental retardation, x-linked, with or without seizures, arx-related 10.9
9 epileptic encephalopathy, early infantile, 8 10.9
10 epileptic encephalopathy, early infantile, 2 10.9
11 congenital disorder of glycosylation, type iim 10.9
12 partington x-linked mental retardation syndrome 10.9
13 epileptic encephalopathy, early infantile, 3 10.9
14 microcephaly, seizures, and developmental delay 10.9
15 epileptic encephalopathy, early infantile, 11 10.9
16 epileptic encephalopathy, early infantile, 14 10.9
17 epileptic encephalopathy, early infantile, 16 10.9
18 epileptic encephalopathy, early infantile, 17 10.9
19 epileptic encephalopathy, early infantile, 18 10.9
20 epileptic encephalopathy, early infantile, 27 10.9
21 epileptic encephalopathy, early infantile, 37 10.9
22 epileptic encephalopathy, early infantile, 47 10.9
23 epileptic encephalopathy, early infantile, 48 10.9
24 epileptic encephalopathy, early infantile, 49 10.9
25 epileptic encephalopathy, early infantile, 52 10.9
26 epileptic encephalopathy, early infantile, 53 10.9
27 epileptic encephalopathy, early infantile, 56 10.9
28 epileptic encephalopathy, early infantile, 58 10.9
29 epileptic encephalopathy, early infantile, 64 10.9
30 epileptic encephalopathy, early infantile, 65 10.9
31 epileptic encephalopathy, early infantile, 68 10.9
32 epileptic encephalopathy, early infantile, 69 10.9
33 spinocerebellar ataxia, autosomal recessive 12 10.2 MAF WWOX
34 iqsec2 10.1
35 benign familial neonatal epilepsy 10.1 KCNQ2 TBC1D24
36 undetermined early-onset epileptic encephalopathy 10.1 AARS WWOX
37 multiple congenital anomalies-hypotonia-seizures syndrome 2 10.1
38 horns in sheep 10.1
39 seizure disorder 10.1 KCNQ2 TBC1D24
40 adolescence-adult electroclinical syndrome 10.1 GABRB3 TBC1D24
41 early myoclonic encephalopathy 10.1 ARX TBC1D24
42 childhood electroclinical syndrome 10.1 GABRB3 TBC1D24
43 malignant migrating partial seizures of infancy 10.0 PLCB1 TBC1D24
44 infancy electroclinical syndrome 10.0 ARX KCNQ2 TBC1D24
45 neonatal period electroclinical syndrome 10.0 ARX KCNQ2 TBC1D24
46 lennox-gastaut syndrome 10.0 GABRB3 TBC1D24
47 generalized epilepsy with febrile seizures plus 10.0 KCNQ2 TBC1D24
48 epilepsy, idiopathic generalized 10 9.8 GABRB3 TBC1D24
49 benign epilepsy with centrotemporal spikes 9.7 KCNQ2 PLCB1 TBC1D24 WWOX
50 early infantile epileptic encephalopathy 9.6 ARX KCNQ2 PLCB1 TBC1D24

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:

60 33 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 spasticity 60 33 hallmark (90%) Very frequent (99-80%) HP:0001257
3 muscle stiffness 60 33 hallmark (90%) Very frequent (99-80%) HP:0003552
4 rigidity 60 33 hallmark (90%) Very frequent (99-80%) HP:0002063
5 status epilepticus 60 33 hallmark (90%) Very frequent (99-80%) HP:0002133
6 hemiplegia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002301
7 hypertonia 60 33 Very frequent (99-80%) HP:0001276
8 hyperreflexia 33 HP:0001347
9 dysphagia 33 HP:0002015
10 dyskinesia 33 HP:0100660
11 microcephaly 33 HP:0000252
12 dyspnea 33 HP:0002094
13 generalized myoclonic seizures 33 HP:0002123
14 dystonia 33 HP:0001332
15 ventriculomegaly 33 HP:0002119
16 epileptic encephalopathy 33 HP:0200134
17 hypsarrhythmia 33 HP:0002521
18 choreoathetosis 33 HP:0001266
19 muscular hypotonia of the trunk 33 HP:0008936

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
spasticity
hyperreflexia
hypertonia
dystonia
hypsarrhythmia
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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 AARS ARX CSNK1E GABRB3 KCNQ2 MAF
2 growth/size/body region MP:0005378 9.5 AARS ARX GABRB3 KCNQ2 MAF PLCB1
3 nervous system MP:0003631 9.23 AARS ARX CSNK1E GABRB3 KCNQ2 MAF

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Examining the Efficacy of tDCS in the Attenuation of Epileptic Paroxysmal Discharges and Clinical Seizures Completed NCT02960347 Phase 2, Phase 3
2 Neuronal Excitability of HCN1 Channel Mutations in Dravet Syndrome Recruiting NCT02896608
3 Genetics of Severe Early Onset Epilepsies Recruiting NCT01858285

Search 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 30 ARX

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 1

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

42
Brain, Liver, Eye

Publications for Epileptic Encephalopathy, Early Infantile, 1

Articles related to Epileptic Encephalopathy, Early Infantile, 1:

(show all 29)
# Title Authors Year
1
Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X). ( 19738637 )
2010
2
Familial Ohtahara syndrome due to a novel ARX gene mutation. ( 21108397 )
2010
3
CDKL5 truncation due to a t(X;2)(p22.1;p25.3) in a girl with X-linked infantile spasm syndrome. ( 19807736 )
2010
4
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. ( 19606478 )
2009
5
Expansion of the ARX spectrum. ( 18462864 )
2008
6
A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). ( 17668384 )
2007
7
Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus. ( 17664401 )
2007
8
MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions. ( 17480217 )
2007
9
Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene. ( 17490853 )
2007
10
XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene. ( 15850492 )
2005
11
Maternal mosaicism for mutations in the ARX gene in a family with X linked mental retardation. ( 16078051 )
2005
12
ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism. ( 15151512 )
2004
13
Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX. ( 15200506 )
2004
14
Brain cysts associated with mutation in the Aristaless related homeobox gene, ARX. ( 12640086 )
2003
15
X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX. ( 12177367 )
2002
16
Clinical study and haplotype analysis in two brothers with Partington syndrome. ( 12376938 )
2002
17
Re-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndrome. ( 12376949 )
2002
18
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. ( 11971879 )
2002
19
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. ( 11889467 )
2002
20
Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation. ( 12376946 )
2002
21
Localization of a gene for nonspecific X-linked mental retardation (MRX 76) to Xp22.3-Xp21.3. ( 12116222 )
2002
22
Confirmation of linkage in X-linked infantile spasms (West syndrome) and refinement of the disease locus to Xp21.3-Xp22.1. ( 10334471 )
1999
23
X linked mental retardation and infantile spasms in a family: new clinical data and linkage to Xp11.4-Xp22.11. ( 10353782 )
1999
24
Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis. ( 10398246 )
1999
25
The X-linked infantile spasms syndrome (MIM 308350) maps to Xp11.4-Xpter in two pedigrees. ( 9307258 )
1997
26
Linkage analysis in three families with nonspecific X-linked mental retardation. ( 8826464 )
1996
27
Anterior basal encephalocele in the median cleft face syndrome. Comments on nosology and treatment. ( 2080994 )
1990
28
X-linked mental retardation with dystonic movements of the hands. ( 3177452 )
1988
29
A morphological classification of sincipital encephalomeningoceles. ( 5008734 )
1972

Variations for Epileptic Encephalopathy, Early Infantile, 1

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

76
# Symbol AA change Variation ID SNP ID
1 ARX p.Pro353Leu VAR_015180 rs104894743

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

6 (show top 50) (show all 664)
# Gene Variation Type Significance SNP ID Assembly Location
1 TBC1D24 NM_001199107.1(TBC1D24): c.1544C> T (p.Ala515Val) single nucleotide variant Uncertain significance rs267607105 GRCh37 Chromosome 16, 2550823: 2550823
2 TBC1D24 NM_001199107.1(TBC1D24): c.1544C> T (p.Ala515Val) single nucleotide variant Uncertain significance rs267607105 GRCh38 Chromosome 16, 2500822: 2500822
3 ARX NM_139058.2(ARX) NT expansion Pathogenic rs387906492 GRCh37 Chromosome X, 25031779: 25031781
4 ARX NM_139058.2(ARX) NT expansion Pathogenic rs387906492 GRCh38 Chromosome X, 25013662: 25013664
5 ARX NM_139058.2(ARX) duplication Conflicting interpretations of pathogenicity rs387906493 GRCh37 Chromosome X, 25031661: 25031684
6 ARX NM_139058.2(ARX) duplication Conflicting interpretations of pathogenicity rs387906493 GRCh38 Chromosome X, 25013544: 25013567
7 ARX NM_139058.2(ARX): c.1058C> T (p.Pro353Leu) single nucleotide variant Pathogenic rs104894743 GRCh37 Chromosome X, 25031054: 25031054
8 ARX NM_139058.2(ARX): c.1058C> T (p.Pro353Leu) single nucleotide variant Pathogenic rs104894743 GRCh38 Chromosome X, 25012937: 25012937
9 ARX ARX, 1,517-BP DEL deletion Pathogenic
10 ARX NM_139058.2(ARX) duplication Pathogenic GRCh37 Chromosome X, 25031782: 25031814
11 ARX NM_139058.2(ARX) duplication Pathogenic GRCh38 Chromosome X, 25013665: 25013697
12 KCNQ2 NM_172107.3(KCNQ2): c.584_593delCTGCGCTCCGinsA (p.Ser195_Leu532delinsTer) indel Pathogenic rs118192197 GRCh37 Chromosome 20, 62076109: 62076118
13 KCNQ2 NM_172107.3(KCNQ2): c.584_593delCTGCGCTCCGinsA (p.Ser195_Leu532delinsTer) indel Pathogenic rs118192197 GRCh38 Chromosome 20, 63444756: 63444765
14 ARX NM_139058.2(ARX) duplication Pathogenic rs1556056125 GRCh37 Chromosome X, 25031651: 25031677
15 ARX NM_139058.2(ARX) duplication Pathogenic rs1556056125 GRCh38 Chromosome X, 25013534: 25013560
16 ARX NM_139058.2(ARX): c.81C> G (p.Tyr27Ter) single nucleotide variant Pathogenic rs398122854 GRCh37 Chromosome X, 25033774: 25033774
17 ARX NM_139058.2(ARX): c.81C> G (p.Tyr27Ter) single nucleotide variant Pathogenic rs398122854 GRCh38 Chromosome X, 25015657: 25015657
18 ARX NM_139058.2(ARX): c.1604T> A (p.Leu535Gln) single nucleotide variant Pathogenic rs387906715 GRCh37 Chromosome X, 25022872: 25022872
19 ARX NM_139058.2(ARX): c.1604T> A (p.Leu535Gln) single nucleotide variant Pathogenic rs387906715 GRCh38 Chromosome X, 25004755: 25004755
20 TBC1D24 NM_001199107.1(TBC1D24): c.724C> T (p.Arg242Cys) single nucleotide variant Pathogenic/Likely pathogenic rs398122965 GRCh37 Chromosome 16, 2546873: 2546873
21 TBC1D24 NM_001199107.1(TBC1D24): c.724C> T (p.Arg242Cys) single nucleotide variant Pathogenic/Likely pathogenic rs398122965 GRCh38 Chromosome 16, 2496872: 2496872
22 TBC1D24 NM_001199107.1(TBC1D24): c.1008delT (p.His336Glnfs) deletion Pathogenic rs398122967 GRCh37 Chromosome 16, 2548263: 2548263
23 TBC1D24 NM_001199107.1(TBC1D24): c.1008delT (p.His336Glnfs) deletion Pathogenic rs398122967 GRCh38 Chromosome 16, 2498262: 2498262
24 ARX NM_139058.2(ARX): c.1347C> T (p.Gly449=) single nucleotide variant Benign rs75489697 GRCh37 Chromosome X, 25025329: 25025329
25 ARX NM_139058.2(ARX): c.1347C> T (p.Gly449=) single nucleotide variant Benign rs75489697 GRCh38 Chromosome X, 25007212: 25007212
26 ARX NM_139058.2(ARX): c.1671G> A (p.Thr557=) single nucleotide variant Conflicting interpretations of pathogenicity rs190910161 GRCh37 Chromosome X, 25022805: 25022805
27 ARX NM_139058.2(ARX): c.1671G> A (p.Thr557=) single nucleotide variant Conflicting interpretations of pathogenicity rs190910161 GRCh38 Chromosome X, 25004688: 25004688
28 ARX NM_139058.2(ARX): c.441_464del24 (p.Ala148_Ala155del) deletion Conflicting interpretations of pathogenicity rs398124510 GRCh37 Chromosome X, 25031648: 25031671
29 ARX NM_139058.2(ARX): c.441_464del24 (p.Ala148_Ala155del) deletion Conflicting interpretations of pathogenicity rs398124510 GRCh38 Chromosome X, 25013531: 25013554
30 ARX NM_139058.2(ARX): c.453_458dupGGCCGC (p.Ala155_Trp156insAlaAla) duplication Conflicting interpretations of pathogenicity rs398124512 GRCh37 Chromosome X, 25031654: 25031659
31 ARX NM_139058.2(ARX): c.453_458dupGGCCGC (p.Ala155_Trp156insAlaAla) duplication Conflicting interpretations of pathogenicity rs398124512 GRCh38 Chromosome X, 25013537: 25013542
32 TBC1D24 NM_020705.2(TBC1D24): c.1125-6C> T single nucleotide variant Benign/Likely benign rs73490287 GRCh37 Chromosome 16, 2549352: 2549352
33 TBC1D24 NM_020705.2(TBC1D24): c.1125-6C> T single nucleotide variant Benign/Likely benign rs73490287 GRCh38 Chromosome 16, 2499351: 2499351
34 TBC1D24 NM_020705.2(TBC1D24): c.1308C> T (p.Tyr436=) single nucleotide variant Conflicting interpretations of pathogenicity rs184639841 GRCh37 Chromosome 16, 2550292: 2550292
35 TBC1D24 NM_020705.2(TBC1D24): c.1308C> T (p.Tyr436=) single nucleotide variant Conflicting interpretations of pathogenicity rs184639841 GRCh38 Chromosome 16, 2500291: 2500291
36 TBC1D24 NM_020705.2(TBC1D24): c.1422G> A (p.Ser474=) single nucleotide variant Benign/Likely benign rs12373107 GRCh37 Chromosome 16, 2550406: 2550406
37 TBC1D24 NM_020705.2(TBC1D24): c.1422G> A (p.Ser474=) single nucleotide variant Benign/Likely benign rs12373107 GRCh38 Chromosome 16, 2500405: 2500405
38 TBC1D24 NM_020705.2(TBC1D24): c.1482G> A (p.Ala494=) single nucleotide variant Benign/Likely benign rs201059992 GRCh37 Chromosome 16, 2550466: 2550466
39 TBC1D24 NM_020705.2(TBC1D24): c.1482G> A (p.Ala494=) single nucleotide variant Benign/Likely benign rs201059992 GRCh38 Chromosome 16, 2500465: 2500465
40 TBC1D24 NM_020705.2(TBC1D24): c.1491C> T (p.Ser497=) single nucleotide variant Benign/Likely benign rs189089167 GRCh37 Chromosome 16, 2550475: 2550475
41 TBC1D24 NM_020705.2(TBC1D24): c.1491C> T (p.Ser497=) single nucleotide variant Benign/Likely benign rs189089167 GRCh38 Chromosome 16, 2500474: 2500474
42 TBC1D24 NM_020705.2(TBC1D24): c.207T> C (p.Pro69=) single nucleotide variant Benign/Likely benign rs13339237 GRCh37 Chromosome 16, 2546356: 2546356
43 TBC1D24 NM_020705.2(TBC1D24): c.207T> C (p.Pro69=) single nucleotide variant Benign/Likely benign rs13339237 GRCh38 Chromosome 16, 2496355: 2496355
44 TBC1D24 NM_020705.2(TBC1D24): c.641G> A (p.Arg214His) single nucleotide variant Conflicting interpretations of pathogenicity rs200324356 GRCh37 Chromosome 16, 2546790: 2546790
45 TBC1D24 NM_020705.2(TBC1D24): c.641G> A (p.Arg214His) single nucleotide variant Conflicting interpretations of pathogenicity rs200324356 GRCh38 Chromosome 16, 2496789: 2496789
46 ARX NM_139058.2(ARX): c.1074-3T> C single nucleotide variant Benign rs200700643 GRCh37 Chromosome X, 25028425: 25028425
47 ARX NM_139058.2(ARX): c.1074-3T> C single nucleotide variant Benign rs200700643 GRCh38 Chromosome X, 25010308: 25010308
48 TBC1D24 NM_001199107.1(TBC1D24): c.204G> A (p.Thr68=) single nucleotide variant Conflicting interpretations of pathogenicity rs201374999 GRCh38 Chromosome 16, 2496352: 2496352
49 TBC1D24 NM_001199107.1(TBC1D24): c.204G> A (p.Thr68=) single nucleotide variant Conflicting interpretations of pathogenicity rs201374999 GRCh37 Chromosome 16, 2546353: 2546353
50 TBC1D24 NM_001199107.1(TBC1D24): c.441C> T (p.Asp147=) single nucleotide variant Benign/Likely benign rs149371169 GRCh38 Chromosome 16, 2496589: 2496589

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

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

# Super pathways Score Top Affiliating Genes
1 11.49 CSNK1E KCNQ2 PLCB1
2
Show member pathways
10.76 CSNK1E GABRB3 PLCB1

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 GABA-ergic synapse GO:0098982 8.62 GABRB3 PLCB1

Sources for Epileptic Encephalopathy, Early Infantile, 1

3 CDC
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