EIEE1
MCID: EPL037
MIFTS: 42

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, 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

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

(show all 49)
# Related Disease Score Top Affiliating Genes
1 west syndrome 31.7 ARX KCNQ2 PLCB1 TBC1D24
2 epileptic encephalopathy, early infantile, 6 30.9 GABRB3 KCNQ2 TBC1D24
3 epilepsy 29.5 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 10.2
35 benign familial neonatal epilepsy 10.1 KCNQ2 TBC1D24
36 horns in sheep 10.1
37 undetermined early-onset epileptic encephalopathy 10.1 AARS WWOX
38 malignant migrating partial seizures of infancy 10.1 PLCB1 TBC1D24
39 seizure disorder 10.1 KCNQ2 TBC1D24
40 early myoclonic encephalopathy 10.1 ARX TBC1D24
41 infancy electroclinical syndrome 10.0 ARX KCNQ2 TBC1D24
42 neonatal period electroclinical syndrome 10.0 ARX KCNQ2 TBC1D24
43 generalized epilepsy with febrile seizures plus 10.0 KCNQ2 TBC1D24
44 adolescence-adult electroclinical syndrome 9.9 GABRB3 TBC1D24
45 childhood electroclinical syndrome 9.9 GABRB3 TBC1D24
46 lennox-gastaut syndrome 9.8 GABRB3 TBC1D24
47 benign epilepsy with centrotemporal spikes 9.7 KCNQ2 PLCB1 TBC1D24 WWOX
48 early infantile epileptic encephalopathy 9.7 ARX KCNQ2 PLCB1 TBC1D24
49 epilepsy, idiopathic generalized 10 9.6 GABRB3 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 choreoathetosis 33 HP:0001266
17 hypsarrhythmia 33 HP:0002521
18 epileptic encephalopathy 33 HP:0200134
19 muscular hypotonia of the trunk 33 HP:0008936

Symptoms via clinical synopsis from OMIM:

58
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

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

Publications for Epileptic Encephalopathy, Early Infantile, 1

Articles related to Epileptic Encephalopathy, Early Infantile, 1:

# Title Authors Year
1
CDKL5 truncation due to a t(X;2)(p22.1;p25.3) in a girl with X-linked infantile spasm syndrome. ( 19807736 )
2010

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 662)
# Gene Variation Type Significance SNP ID Assembly Location
1 ARX NM_139058.2(ARX): c.1318_1320dupGCC (p.Ala440_Phe441insAla) duplication Conflicting interpretations of pathogenicity rs398124508 GRCh38 Chromosome X, 25007239: 25007241
2 ARX NM_139058.2(ARX): c.1318_1320dupGCC (p.Ala440_Phe441insAla) duplication Conflicting interpretations of pathogenicity rs398124508 GRCh37 Chromosome X, 25025356: 25025358
3 ARX NM_139058.2(ARX): c.1465del (p.Ala489Profs) deletion Pathogenic rs587783191 GRCh37 Chromosome X, 25023011: 25023011
4 ARX NM_139058.2(ARX): c.1465del (p.Ala489Profs) deletion Pathogenic rs587783191 GRCh38 Chromosome X, 25004894: 25004894
5 ARX NM_139058.2(ARX): c.330_335delGGCGGC (p.Ala114_Ala115del) deletion Benign/Likely benign rs387906492 GRCh37 Chromosome X, 25031777: 25031782
6 ARX NM_139058.2(ARX): c.330_335delGGCGGC (p.Ala114_Ala115del) deletion Benign/Likely benign rs387906492 GRCh38 Chromosome X, 25013660: 25013665
7 ARX NM_139058.2(ARX): c.333_335dupGGC (p.Ala115_Thr116insAla) duplication Conflicting interpretations of pathogenicity rs387906492 GRCh38 Chromosome X, 25013660: 25013662
8 ARX NM_139058.2(ARX): c.333_335dupGGC (p.Ala115_Thr116insAla) duplication Conflicting interpretations of pathogenicity rs387906492 GRCh37 Chromosome X, 25031777: 25031779
9 ARX NM_139058.2(ARX): c.454G> A (p.Ala152Thr) single nucleotide variant Uncertain significance rs587783201 GRCh37 Chromosome X, 25031658: 25031658
10 ARX NM_139058.2(ARX): c.454G> A (p.Ala152Thr) single nucleotide variant Uncertain significance rs587783201 GRCh38 Chromosome X, 25013541: 25013541
11 TBC1D24 NM_001199107.1(TBC1D24): c.328G> A (p.Gly110Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs747821285 GRCh38 Chromosome 16, 2496476: 2496476
12 TBC1D24 NM_001199107.1(TBC1D24): c.328G> A (p.Gly110Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs747821285 GRCh37 Chromosome 16, 2546477: 2546477
13 TBC1D24 NM_020705.2(TBC1D24): c.22T> C (p.Cys8Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs77585883 GRCh37 Chromosome 16, 2546171: 2546171
14 TBC1D24 NM_020705.2(TBC1D24): c.22T> C (p.Cys8Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs77585883 GRCh38 Chromosome 16, 2496170: 2496170
15 TBC1D24 NM_001199107.1(TBC1D24): c.785C> T (p.Ser262Leu) single nucleotide variant Benign/Likely benign rs201060500 GRCh37 Chromosome 16, 2546934: 2546934
16 TBC1D24 NM_001199107.1(TBC1D24): c.785C> T (p.Ser262Leu) single nucleotide variant Benign/Likely benign rs201060500 GRCh38 Chromosome 16, 2496933: 2496933
17 TBC1D24 NM_001199107.1(TBC1D24): c.169C> T (p.Arg57Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs202162520 GRCh37 Chromosome 16, 2546318: 2546318
18 TBC1D24 NM_001199107.1(TBC1D24): c.169C> T (p.Arg57Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs202162520 GRCh38 Chromosome 16, 2496317: 2496317
19 ARX NM_139058.2(ARX): c.1269C> T (p.His423=) single nucleotide variant Conflicting interpretations of pathogenicity rs794727656 GRCh37 Chromosome X, 25025407: 25025407
20 ARX NM_139058.2(ARX): c.1269C> T (p.His423=) single nucleotide variant Conflicting interpretations of pathogenicity rs794727656 GRCh38 Chromosome X, 25007290: 25007290
21 TBC1D24 NM_001199107.1(TBC1D24): c.178C> T (p.Arg60Trp) single nucleotide variant Uncertain significance rs373914077 GRCh38 Chromosome 16, 2496326: 2496326
22 TBC1D24 NM_001199107.1(TBC1D24): c.178C> T (p.Arg60Trp) single nucleotide variant Uncertain significance rs373914077 GRCh37 Chromosome 16, 2546327: 2546327
23 TBC1D24 NM_001199107.1(TBC1D24): c.179G> A (p.Arg60Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs200226466 GRCh38 Chromosome 16, 2496327: 2496327
24 TBC1D24 NM_001199107.1(TBC1D24): c.179G> A (p.Arg60Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs200226466 GRCh37 Chromosome 16, 2546328: 2546328
25 TBC1D24 NM_001199107.1(TBC1D24): c.344G> A (p.Arg115His) single nucleotide variant Uncertain significance rs201174513 GRCh38 Chromosome 16, 2496492: 2496492
26 TBC1D24 NM_001199107.1(TBC1D24): c.344G> A (p.Arg115His) single nucleotide variant Uncertain significance rs201174513 GRCh37 Chromosome 16, 2546493: 2546493
27 TBC1D24 NM_001199107.1(TBC1D24): c.457G> A (p.Glu153Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs376712059 GRCh38 Chromosome 16, 2496605: 2496605
28 TBC1D24 NM_001199107.1(TBC1D24): c.457G> A (p.Glu153Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs376712059 GRCh37 Chromosome 16, 2546606: 2546606
29 TBC1D24 NM_001199107.1(TBC1D24): c.493G> A (p.Gly165Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs200926225 GRCh38 Chromosome 16, 2496641: 2496641
30 TBC1D24 NM_001199107.1(TBC1D24): c.493G> A (p.Gly165Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs200926225 GRCh37 Chromosome 16, 2546642: 2546642
31 TBC1D24 NM_001199107.1(TBC1D24): c.630G> A (p.Ala210=) single nucleotide variant Benign/Likely benign rs776459372 GRCh38 Chromosome 16, 2496778: 2496778
32 TBC1D24 NM_001199107.1(TBC1D24): c.630G> A (p.Ala210=) single nucleotide variant Benign/Likely benign rs776459372 GRCh37 Chromosome 16, 2546779: 2546779
33 TBC1D24 NM_001199107.1(TBC1D24): c.663C> T (p.Pro221=) single nucleotide variant Benign rs148670169 GRCh38 Chromosome 16, 2496811: 2496811
34 TBC1D24 NM_001199107.1(TBC1D24): c.663C> T (p.Pro221=) single nucleotide variant Benign rs148670169 GRCh37 Chromosome 16, 2546812: 2546812
35 TBC1D24 NM_001199107.1(TBC1D24): c.702G> A (p.Val234=) single nucleotide variant Conflicting interpretations of pathogenicity rs188739853 GRCh37 Chromosome 16, 2546851: 2546851
36 TBC1D24 NM_001199107.1(TBC1D24): c.702G> A (p.Val234=) single nucleotide variant Conflicting interpretations of pathogenicity rs188739853 GRCh38 Chromosome 16, 2496850: 2496850
37 TBC1D24 NM_020705.2(TBC1D24): c.845C> G (p.Pro282Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs747538224 GRCh37 Chromosome 16, 2546994: 2546994
38 TBC1D24 NM_020705.2(TBC1D24): c.845C> G (p.Pro282Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs747538224 GRCh38 Chromosome 16, 2496993: 2496993
39 TBC1D24 NM_001199107.1(TBC1D24): c.871G> A (p.Ala291Thr) single nucleotide variant Uncertain significance rs375307187 GRCh38 Chromosome 16, 2497019: 2497019
40 TBC1D24 NM_001199107.1(TBC1D24): c.871G> A (p.Ala291Thr) single nucleotide variant Uncertain significance rs375307187 GRCh37 Chromosome 16, 2547020: 2547020
41 TBC1D24 NM_001199107.1(TBC1D24): c.878G> A (p.Arg293His) single nucleotide variant Uncertain significance rs199700840 GRCh37 Chromosome 16, 2547027: 2547027
42 TBC1D24 NM_001199107.1(TBC1D24): c.878G> A (p.Arg293His) single nucleotide variant Uncertain significance rs199700840 GRCh38 Chromosome 16, 2497026: 2497026
43 TBC1D24 NM_001199107.1(TBC1D24): c.951C> T (p.Thr317=) single nucleotide variant Conflicting interpretations of pathogenicity rs766745103 GRCh38 Chromosome 16, 2497099: 2497099
44 TBC1D24 NM_001199107.1(TBC1D24): c.951C> T (p.Thr317=) single nucleotide variant Conflicting interpretations of pathogenicity rs766745103 GRCh37 Chromosome 16, 2547100: 2547100
45 TBC1D24 NM_001199107.1(TBC1D24): c.1028A> C (p.Glu343Ala) single nucleotide variant Uncertain significance rs188124777 GRCh38 Chromosome 16, 2498282: 2498282
46 TBC1D24 NM_001199107.1(TBC1D24): c.1028A> C (p.Glu343Ala) single nucleotide variant Uncertain significance rs188124777 GRCh37 Chromosome 16, 2548283: 2548283
47 TBC1D24 NM_001199107.1(TBC1D24): c.1473C> G (p.Pro491=) single nucleotide variant Conflicting interpretations of pathogenicity rs370427146 GRCh38 Chromosome 16, 2500438: 2500438
48 TBC1D24 NM_001199107.1(TBC1D24): c.1473C> G (p.Pro491=) single nucleotide variant Conflicting interpretations of pathogenicity rs370427146 GRCh37 Chromosome 16, 2550439: 2550439
49 TBC1D24 NM_001199107.1(TBC1D24): c.1327G> A (p.Glu443Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs141399869 GRCh38 Chromosome 16, 2500292: 2500292
50 TBC1D24 NM_001199107.1(TBC1D24): c.1327G> A (p.Glu443Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs141399869 GRCh37 Chromosome 16, 2550293: 2550293

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

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