EIEE1
MCID: EPL037
MIFTS: 40

Epileptic Encephalopathy, Early Infantile, 1 (EIEE1)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle 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 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 west syndrome and epileptic encephalopathy, early infantile, 6, and has symptoms including dyspnea, myoclonic seizures and muscle spasticity. An important gene associated with Epileptic Encephalopathy, Early Infantile, 1 is ARX (Aristaless Related Homeobox). Affiliated tissues include brain, liver and eye, 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
Epileptic Encephalopathy, Early Infantile, 66 Epileptic Encephalopathy, Early Infantile, 67
Early Infantile Epileptic Encephalopathy 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 43)
# Related Disease Score Top Affiliating Genes
1 west syndrome 31.4 ARX KCNQ2 PLCB1 TBC1D24
2 epileptic encephalopathy, early infantile, 6 31.0 KCNQ2 TBC1D24
3 epilepsy 29.9 ARX 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 infantile epileptic encephalopathy 10.3
32 iqsec2 10.1
33 spinocerebellar ataxia, autosomal recessive 12 10.0 MAF WWOX
34 benign familial neonatal epilepsy 10.0 KCNQ2 TBC1D24
35 seizure disorder 10.0 KCNQ2 TBC1D24
36 early myoclonic encephalopathy 9.9 ARX TBC1D24
37 generalized epilepsy with febrile seizures plus 9.9 KCNQ2 TBC1D24
38 malignant migrating partial seizures of infancy 9.9 PLCB1 TBC1D24
39 infancy electroclinical syndrome 9.8 ARX KCNQ2 TBC1D24
40 neonatal period electroclinical syndrome 9.8 ARX KCNQ2 TBC1D24
41 epilepsy, idiopathic generalized 9.8 ARX KCNQ2 TBC1D24
42 benign epilepsy with centrotemporal spikes 9.6 KCNQ2 PLCB1 TBC1D24 WWOX
43 early infantile epileptic encephalopathy 9.5 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

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 19)
# 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 muscle stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0003552
5 rigidity 59 32 hallmark (90%) Very frequent (99-80%) HP:0002063
6 status epilepticus 59 32 hallmark (90%) Very frequent (99-80%) HP:0002133
7 hemiplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002301
8 hyperreflexia 32 HP:0001347
9 dysphagia 32 HP:0002015
10 dyskinesia 32 HP:0100660
11 microcephaly 32 HP:0000252
12 dyspnea 32 HP:0002094
13 generalized myoclonic seizures 32 HP:0002123
14 dystonia 32 HP:0001332
15 ventriculomegaly 32 HP:0002119
16 choreoathetosis 32 HP:0001266
17 hypsarrhythmia 32 HP:0002521
18 epileptic encephalopathy 32 HP:0200134
19 muscular hypotonia of the trunk 32 HP:0008936

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


dyspnea, myoclonic seizures, muscle spasticity

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.55 ARX KCNQ2 MAF PLCB1 WWOX
2 nervous system MP:0003631 9.35 ARX KCNQ2 MAF PLCB1 WWOX
3 reproductive system MP:0005389 8.92 ARX KCNQ2 PLCB1 WWOX

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:

41
Brain, Liver, Eye

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 653)
# 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 duplication Pathogenic
11 KCNQ2 NM_172107.3(KCNQ2): c.584_593delCTGCGCTCCGinsA (p.Ser195_Leu532delinsTer) indel Pathogenic rs118192197 GRCh37 Chromosome 20, 62076109: 62076118
12 KCNQ2 NM_172107.3(KCNQ2): c.584_593delCTGCGCTCCGinsA (p.Ser195_Leu532delinsTer) indel Pathogenic rs118192197 GRCh38 Chromosome 20, 63444756: 63444765
13 ARX NM_139058.2(ARX) duplication Pathogenic rs587776869 GRCh37 Chromosome X, 25031651: 25031677
14 ARX NM_139058.2(ARX) duplication Pathogenic rs587776869 GRCh38 Chromosome X, 25013534: 25013560
15 ARX NM_139058.2(ARX): c.81C> G (p.Tyr27Ter) single nucleotide variant Pathogenic rs398122854 GRCh37 Chromosome X, 25033774: 25033774
16 ARX NM_139058.2(ARX): c.81C> G (p.Tyr27Ter) single nucleotide variant Pathogenic rs398122854 GRCh38 Chromosome X, 25015657: 25015657
17 ARX NM_139058.2(ARX): c.1604T> A (p.Leu535Gln) single nucleotide variant Pathogenic rs387906715 GRCh37 Chromosome X, 25022872: 25022872
18 ARX NM_139058.2(ARX): c.1604T> A (p.Leu535Gln) single nucleotide variant Pathogenic rs387906715 GRCh38 Chromosome X, 25004755: 25004755
19 TBC1D24 NM_001199107.1(TBC1D24): c.724C> T (p.Arg242Cys) single nucleotide variant Pathogenic/Likely pathogenic rs398122965 GRCh37 Chromosome 16, 2546873: 2546873
20 TBC1D24 NM_001199107.1(TBC1D24): c.724C> T (p.Arg242Cys) single nucleotide variant Pathogenic/Likely pathogenic rs398122965 GRCh38 Chromosome 16, 2496872: 2496872
21 TBC1D24 NM_001199107.1(TBC1D24): c.1008delT (p.His336Glnfs) deletion Pathogenic rs398122967 GRCh37 Chromosome 16, 2548263: 2548263
22 TBC1D24 NM_001199107.1(TBC1D24): c.1008delT (p.His336Glnfs) deletion Pathogenic rs398122967 GRCh38 Chromosome 16, 2498262: 2498262
23 ARX NM_139058.2(ARX): c.1347C> T (p.Gly449=) single nucleotide variant Benign rs75489697 GRCh37 Chromosome X, 25025329: 25025329
24 ARX NM_139058.2(ARX): c.1347C> T (p.Gly449=) single nucleotide variant Benign rs75489697 GRCh38 Chromosome X, 25007212: 25007212
25 ARX NM_139058.2(ARX): c.1671G> A (p.Thr557=) single nucleotide variant Conflicting interpretations of pathogenicity rs190910161 GRCh37 Chromosome X, 25022805: 25022805
26 ARX NM_139058.2(ARX): c.1671G> A (p.Thr557=) single nucleotide variant Conflicting interpretations of pathogenicity rs190910161 GRCh38 Chromosome X, 25004688: 25004688
27 ARX NM_139058.2(ARX): c.441_464del24 (p.Ala148_Ala155del) deletion Conflicting interpretations of pathogenicity rs398124510 GRCh37 Chromosome X, 25031648: 25031671
28 ARX NM_139058.2(ARX): c.441_464del24 (p.Ala148_Ala155del) deletion Conflicting interpretations of pathogenicity rs398124510 GRCh38 Chromosome X, 25013531: 25013554
29 ARX NM_139058.2(ARX): c.453_458dupGGCCGC (p.Ala155_Trp156insAlaAla) duplication Uncertain significance rs398124512 GRCh37 Chromosome X, 25031654: 25031659
30 ARX NM_139058.2(ARX): c.453_458dupGGCCGC (p.Ala155_Trp156insAlaAla) duplication Uncertain significance rs398124512 GRCh38 Chromosome X, 25013537: 25013542
31 TBC1D24 NM_020705.2(TBC1D24): c.1125-6C> T single nucleotide variant Benign/Likely benign rs73490287 GRCh37 Chromosome 16, 2549352: 2549352
32 TBC1D24 NM_020705.2(TBC1D24): c.1125-6C> T single nucleotide variant Benign/Likely benign rs73490287 GRCh38 Chromosome 16, 2499351: 2499351
33 TBC1D24 NM_020705.2(TBC1D24): c.1308C> T (p.Tyr436=) single nucleotide variant Conflicting interpretations of pathogenicity rs184639841 GRCh37 Chromosome 16, 2550292: 2550292
34 TBC1D24 NM_020705.2(TBC1D24): c.1308C> T (p.Tyr436=) single nucleotide variant Conflicting interpretations of pathogenicity rs184639841 GRCh38 Chromosome 16, 2500291: 2500291
35 TBC1D24 NM_020705.2(TBC1D24): c.1422G> A (p.Ser474=) single nucleotide variant Benign/Likely benign rs12373107 GRCh37 Chromosome 16, 2550406: 2550406
36 TBC1D24 NM_020705.2(TBC1D24): c.1422G> A (p.Ser474=) single nucleotide variant Benign/Likely benign rs12373107 GRCh38 Chromosome 16, 2500405: 2500405
37 TBC1D24 NM_020705.2(TBC1D24): c.1482G> A (p.Ala494=) single nucleotide variant Benign/Likely benign rs201059992 GRCh37 Chromosome 16, 2550466: 2550466
38 TBC1D24 NM_020705.2(TBC1D24): c.1482G> A (p.Ala494=) single nucleotide variant Benign/Likely benign rs201059992 GRCh38 Chromosome 16, 2500465: 2500465
39 TBC1D24 NM_020705.2(TBC1D24): c.1491C> T (p.Ser497=) single nucleotide variant Benign/Likely benign rs189089167 GRCh37 Chromosome 16, 2550475: 2550475
40 TBC1D24 NM_020705.2(TBC1D24): c.1491C> T (p.Ser497=) single nucleotide variant Benign/Likely benign rs189089167 GRCh38 Chromosome 16, 2500474: 2500474
41 TBC1D24 NM_020705.2(TBC1D24): c.207T> C (p.Pro69=) single nucleotide variant Benign/Likely benign rs13339237 GRCh37 Chromosome 16, 2546356: 2546356
42 TBC1D24 NM_020705.2(TBC1D24): c.207T> C (p.Pro69=) single nucleotide variant Benign/Likely benign rs13339237 GRCh38 Chromosome 16, 2496355: 2496355
43 TBC1D24 NM_020705.2(TBC1D24): c.641G> A (p.Arg214His) single nucleotide variant Conflicting interpretations of pathogenicity rs200324356 GRCh37 Chromosome 16, 2546790: 2546790
44 TBC1D24 NM_020705.2(TBC1D24): c.641G> A (p.Arg214His) single nucleotide variant Conflicting interpretations of pathogenicity rs200324356 GRCh38 Chromosome 16, 2496789: 2496789
45 ARX NM_139058.2(ARX): c.1074-3T> C single nucleotide variant Benign rs200700643 GRCh37 Chromosome X, 25028425: 25028425
46 ARX NM_139058.2(ARX): c.1074-3T> C single nucleotide variant Benign rs200700643 GRCh38 Chromosome X, 25010308: 25010308
47 TBC1D24 NM_001199107.1(TBC1D24): c.204G> A (p.Thr68=) single nucleotide variant Conflicting interpretations of pathogenicity rs201374999 GRCh38 Chromosome 16, 2496352: 2496352
48 TBC1D24 NM_001199107.1(TBC1D24): c.204G> A (p.Thr68=) single nucleotide variant Conflicting interpretations of pathogenicity rs201374999 GRCh37 Chromosome 16, 2546353: 2546353
49 TBC1D24 NM_001199107.1(TBC1D24): c.441C> T (p.Asp147=) single nucleotide variant Benign/Likely benign rs149371169 GRCh38 Chromosome 16, 2496589: 2496589
50 TBC1D24 NM_001199107.1(TBC1D24): c.441C> T (p.Asp147=) single nucleotide variant Benign/Likely benign rs149371169 GRCh37 Chromosome 16, 2546590: 2546590

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

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

# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 8.62 KCNQ2 PLCB1

Sources for Epileptic Encephalopathy, Early Infantile, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....