MCID: EPL037
MIFTS: 37

Epileptic Encephalopathy, Early Infantile, 1

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Mental diseases, Liver diseases, Metabolic diseases, Muscle diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 1

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

Name: Epileptic Encephalopathy, Early Infantile, 1 57 25 75 29 13 6 73
Infantile Epileptic-Dyskinetic Encephalopathy 57 25 59 75
Eiee1 57 25 75
Issx1 57 25 75
X-Linked Infantile Spasm Syndrome 25 73
Xmesid 57 75
Myoclonic Epilepsy X-Linked with Intellectual Disability and Spasticity 75
X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome 59
Encephalopathy, Epileptic, Early Infantile, Type 1 40
Infantile Spasm Syndrome, X-Linked 1; Issx1 57
Early Infantile Epileptic Encephalopathy 1 25
Early Infantile Epileptic Encephalopathy-1 25
Infantile Spasm Syndrome, X-Linked 1 57
X-Linked Infantile Spasm Syndrome 1 25
Infantile Spasm Syndrome X-Linked 1 75
Ohtahara Syndrome, X-Linked 57
X-Linked Ohtahara Syndrome 25
Ohtahara Syndrome X-Linked 75
West Syndrome, X-Linked 57
X-Linked West Syndrome 25
West Syndrome X-Linked 75
Issx 25

Characteristics:

Orphanet epidemiological data:

59
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
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:

32
epileptic encephalopathy, early infantile, 1:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Epileptic Encephalopathy, Early Infantile, 1

OMIM : 57 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 epileptic encephalopathy, early infantile, 6 and west syndrome, 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). Affiliated tissues include brain, and related phenotypes are intellectual disability and spasticity

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.

UniProtKB/Swiss-Prot : 75 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 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, 25
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
Infantile Epileptic Encephalopathy 56 Infantile Epileptic Encephalopathy 55
Infantile Epileptic Encephalopathy 57 Infantile Epileptic Encephalopathy 58
Infantile Epileptic Encephalopathy 59

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

(show all 42)
# Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, early infantile, 6 30.8 KCNQ2 TBC1D24
2 west syndrome 30.7 ARX KCNQ2 TBC1D24
3 corpus callosum, agenesis of, with abnormal genitalia 10.7
4 epileptic encephalopathy, early infantile, 9 10.7
5 lissencephaly, x-linked, 2 10.7
6 mental retardation, x-linked, with or without seizures, arx-related 10.7
7 epileptic encephalopathy, early infantile, 8 10.7
8 epileptic encephalopathy, early infantile, 2 10.7
9 congenital disorder of glycosylation, type iim 10.7
10 partington x-linked mental retardation syndrome 10.7
11 epileptic encephalopathy, early infantile, 3 10.7
12 microcephaly, seizures, and developmental delay 10.7
13 epileptic encephalopathy, early infantile, 11 10.7
14 epileptic encephalopathy, early infantile, 14 10.7
15 epileptic encephalopathy, early infantile, 16 10.7
16 epileptic encephalopathy, early infantile, 17 10.7
17 epileptic encephalopathy, early infantile, 18 10.7
18 epileptic encephalopathy, early infantile, 27 10.7
19 epileptic encephalopathy, early infantile, 37 10.7
20 epileptic encephalopathy, early infantile, 47 10.7
21 epileptic encephalopathy, early infantile, 48 10.7
22 epileptic encephalopathy, early infantile, 49 10.7
23 epileptic encephalopathy, early infantile, 52 10.7
24 epileptic encephalopathy, early infantile, 53 10.7
25 epileptic encephalopathy, early infantile, 56 10.7
26 epileptic encephalopathy, early infantile, 58 10.7
27 epileptic encephalopathy, early infantile, 64 10.7
28 epileptic encephalopathy, early infantile, 65 10.7
29 benign familial neonatal epilepsy 9.9 KCNQ2 TBC1D24
30 infantile epileptic encephalopathy 9.9
31 iqsec2 9.9
32 childhood electroclinical syndrome 9.9 KCNQ2 TBC1D24
33 lennox-gastaut syndrome 9.8 KCNQ2 TBC1D24
34 generalized epilepsy with febrile seizures plus 9.7 KCNQ2 TBC1D24
35 spinocerebellar ataxia, autosomal recessive 12 9.7 MAF WWOX
36 benign epilepsy with centrotemporal spikes 9.5 KCNQ2 TBC1D24 WWOX
37 epileptic encephalopathy, early infantile, 15 9.5 ARX KCNQ2
38 infancy electroclinical syndrome 9.3 ARX KCNQ2 TBC1D24
39 neonatal period electroclinical syndrome 9.3 ARX KCNQ2 TBC1D24
40 epilepsy, idiopathic generalized 9.2 ARX KCNQ2 TBC1D24
41 epilepsy 9.2 ARX KCNQ2 TBC1D24
42 trehalase deficiency 8.6 ARX KCNQ2 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 1:

59 32 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
2 spasticity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001257
3 hypertonia 59 32 Very frequent (99-80%) HP:0001276
4 rigidity 59 32 hallmark (90%) Very frequent (99-80%) HP:0002063
5 hemiplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002301
6 status epilepticus 59 32 hallmark (90%) Very frequent (99-80%) HP:0002133
7 muscle stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0003552
8 hyperreflexia 32 HP:0001347
9 dysphagia 32 HP:0002015
10 microcephaly 32 HP:0000252
11 dyspnea 32 HP:0002094
12 generalized myoclonic seizures 32 HP:0002123
13 dystonia 32 HP:0001332
14 ventriculomegaly 32 HP:0002119
15 choreoathetosis 32 HP:0001266
16 hypsarrhythmia 32 HP:0002521
17 epileptic encephalopathy 32 HP:0200134
18 muscular hypotonia of the trunk 32 HP:0008936

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


dyspnea, muscle spasticity, myoclonic seizures

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 29 ARX

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 1

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

41
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:

75
# 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 460)
# Gene Variation Type Significance SNP ID Assembly Location
1 ARX NM_139058.2(ARX) NT expansion Pathogenic rs387906492 GRCh37 Chromosome X, 25031779: 25031781
2 ARX NM_139058.2(ARX) NT expansion Pathogenic rs387906492 GRCh38 Chromosome X, 25013662: 25013664
3 ARX NM_139058.2(ARX): c.1058C> T (p.Pro353Leu) single nucleotide variant Pathogenic rs104894743 GRCh37 Chromosome X, 25031054: 25031054
4 ARX NM_139058.2(ARX): c.1058C> T (p.Pro353Leu) single nucleotide variant Pathogenic rs104894743 GRCh38 Chromosome X, 25012937: 25012937
5 ARX ARX, 1,517-BP DEL deletion Pathogenic
6 ARX ARX, 33-BP DUP duplication Pathogenic
7 ARX ARX, 1-BP DEL, 1465G deletion Pathogenic
8 ARX NM_139058.2(ARX) duplication Pathogenic rs587776869 GRCh37 Chromosome X, 25031651: 25031677
9 ARX NM_139058.2(ARX) duplication Pathogenic rs587776869 GRCh38 Chromosome X, 25013534: 25013560
10 ARX NM_139058.2(ARX): c.81C> G (p.Tyr27Ter) single nucleotide variant Pathogenic rs398122854 GRCh37 Chromosome X, 25033774: 25033774
11 ARX NM_139058.2(ARX): c.81C> G (p.Tyr27Ter) single nucleotide variant Pathogenic rs398122854 GRCh38 Chromosome X, 25015657: 25015657
12 ARX NM_139058.2(ARX): c.1604T> A (p.Leu535Gln) single nucleotide variant Pathogenic rs387906715 GRCh37 Chromosome X, 25022872: 25022872
13 ARX NM_139058.2(ARX): c.1604T> A (p.Leu535Gln) single nucleotide variant Pathogenic rs387906715 GRCh38 Chromosome X, 25004755: 25004755
14 TBC1D24 NM_001199107.1(TBC1D24): c.724C> T (p.Arg242Cys) single nucleotide variant Pathogenic/Likely pathogenic rs398122965 GRCh37 Chromosome 16, 2546873: 2546873
15 TBC1D24 NM_001199107.1(TBC1D24): c.724C> T (p.Arg242Cys) single nucleotide variant Pathogenic/Likely pathogenic rs398122965 GRCh38 Chromosome 16, 2496872: 2496872
16 TBC1D24 NM_001199107.1(TBC1D24): c.1008delT (p.His336Glnfs) deletion Pathogenic rs398122967 GRCh37 Chromosome 16, 2548263: 2548263
17 TBC1D24 NM_001199107.1(TBC1D24): c.1008delT (p.His336Glnfs) deletion Pathogenic rs398122967 GRCh38 Chromosome 16, 2498262: 2498262
18 ARX NM_139058.2(ARX): c.802G> T (p.Val268Leu) single nucleotide variant Benign rs587783141 GRCh38 Chromosome X, 25013193: 25013193
19 ARX NM_139058.2(ARX): c.802G> T (p.Val268Leu) single nucleotide variant Benign rs587783141 GRCh37 Chromosome X, 25031310: 25031310
20 ARX NM_139058.2(ARX): c.1111C> T (p.Arg371Ter) single nucleotide variant Pathogenic rs587783182 GRCh37 Chromosome X, 25028385: 25028385
21 ARX NM_139058.2(ARX): c.1111C> T (p.Arg371Ter) single nucleotide variant Pathogenic rs587783182 GRCh38 Chromosome X, 25010268: 25010268
22 ARX NM_139058.2(ARX): c.1318_1320dupGCC (p.Ala440_Phe441insAla) duplication Conflicting interpretations of pathogenicity rs398124508 GRCh38 Chromosome X, 25007239: 25007241
23 ARX NM_139058.2(ARX): c.1318_1320dupGCC (p.Ala440_Phe441insAla) duplication Conflicting interpretations of pathogenicity rs398124508 GRCh37 Chromosome X, 25025356: 25025358
24 ARX NM_139058.2(ARX): c.330_335delGGCGGC (p.Ala114_Ala115del) deletion Benign/Likely benign rs587783197 GRCh37 Chromosome X, 25031777: 25031782
25 ARX NM_139058.2(ARX): c.330_335delGGCGGC (p.Ala114_Ala115del) deletion Benign/Likely benign rs587783197 GRCh38 Chromosome X, 25013660: 25013665
26 ARX NM_139058.2(ARX): c.333_335dupGGC (p.Ala115_Thr116insAla) duplication Conflicting interpretations of pathogenicity rs587783198 GRCh38 Chromosome X, 25013660: 25013662
27 ARX NM_139058.2(ARX): c.333_335dupGGC (p.Ala115_Thr116insAla) duplication Conflicting interpretations of pathogenicity rs587783198 GRCh37 Chromosome X, 25031777: 25031779
28 ARX NM_139058.2(ARX): c.454G> A (p.Ala152Thr) single nucleotide variant Uncertain significance rs587783201 GRCh37 Chromosome X, 25031658: 25031658
29 ARX NM_139058.2(ARX): c.454G> A (p.Ala152Thr) single nucleotide variant Uncertain significance rs587783201 GRCh38 Chromosome X, 25013541: 25013541
30 TBC1D24 NM_001199107.1(TBC1D24): c.328G> A (p.Gly110Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs747821285 GRCh38 Chromosome 16, 2496476: 2496476
31 TBC1D24 NM_001199107.1(TBC1D24): c.328G> A (p.Gly110Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs747821285 GRCh37 Chromosome 16, 2546477: 2546477
32 ARX NM_139058.2(ARX): c.30C> A (p.Cys10Ter) single nucleotide variant Pathogenic rs794726959 GRCh37 Chromosome X, 25033825: 25033825
33 ARX NM_139058.2(ARX): c.30C> A (p.Cys10Ter) single nucleotide variant Pathogenic rs794726959 GRCh38 Chromosome X, 25015708: 25015708
34 TBC1D24 NM_020705.2(TBC1D24): c.22T> C (p.Cys8Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs77585883 GRCh37 Chromosome 16, 2546171: 2546171
35 TBC1D24 NM_020705.2(TBC1D24): c.22T> C (p.Cys8Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs77585883 GRCh38 Chromosome 16, 2496170: 2496170
36 TBC1D24 NM_001199107.1(TBC1D24): c.785C> T (p.Ser262Leu) single nucleotide variant Benign/Likely benign rs201060500 GRCh37 Chromosome 16, 2546934: 2546934
37 TBC1D24 NM_001199107.1(TBC1D24): c.785C> T (p.Ser262Leu) single nucleotide variant Benign/Likely benign rs201060500 GRCh38 Chromosome 16, 2496933: 2496933
38 TBC1D24 NM_001199107.1(TBC1D24): c.169C> T (p.Arg57Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs202162520 GRCh37 Chromosome 16, 2546318: 2546318
39 TBC1D24 NM_001199107.1(TBC1D24): c.169C> T (p.Arg57Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs202162520 GRCh38 Chromosome 16, 2496317: 2496317
40 ARX NM_139058.2(ARX): c.1269C> T (p.His423=) single nucleotide variant Conflicting interpretations of pathogenicity rs794727656 GRCh37 Chromosome X, 25025407: 25025407
41 ARX NM_139058.2(ARX): c.1269C> T (p.His423=) single nucleotide variant Conflicting interpretations of pathogenicity rs794727656 GRCh38 Chromosome X, 25007290: 25007290
42 TBC1D24 NM_001199107.1(TBC1D24): c.179G> A (p.Arg60Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs200226466 GRCh38 Chromosome 16, 2496327: 2496327
43 TBC1D24 NM_001199107.1(TBC1D24): c.179G> A (p.Arg60Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs200226466 GRCh37 Chromosome 16, 2546328: 2546328
44 TBC1D24 NM_001199107.1(TBC1D24): c.344G> A (p.Arg115His) single nucleotide variant Uncertain significance rs201174513 GRCh38 Chromosome 16, 2496492: 2496492
45 TBC1D24 NM_001199107.1(TBC1D24): c.344G> A (p.Arg115His) single nucleotide variant Uncertain significance rs201174513 GRCh37 Chromosome 16, 2546493: 2546493
46 TBC1D24 NM_001199107.1(TBC1D24): c.457G> A (p.Glu153Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs376712059 GRCh38 Chromosome 16, 2496605: 2496605
47 TBC1D24 NM_001199107.1(TBC1D24): c.457G> A (p.Glu153Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs376712059 GRCh37 Chromosome 16, 2546606: 2546606
48 TBC1D24 NM_001199107.1(TBC1D24): c.493G> A (p.Gly165Ser) single nucleotide variant Benign/Likely benign rs200926225 GRCh38 Chromosome 16, 2496641: 2496641
49 TBC1D24 NM_001199107.1(TBC1D24): c.493G> A (p.Gly165Ser) single nucleotide variant Benign/Likely benign rs200926225 GRCh37 Chromosome 16, 2546642: 2546642
50 TBC1D24 NM_001199107.1(TBC1D24): c.630G> A (p.Ala210=) single nucleotide variant Benign/Likely benign rs776459372 GRCh38 Chromosome 16, 2496778: 2496778

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

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 8.8 ARX MAF WWOX

Sources for Epileptic Encephalopathy, Early Infantile, 1

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