MCID: EPL037
MIFTS: 36

Epileptic Encephalopathy, Early Infantile, 1

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 1

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

Name: Epileptic Encephalopathy, Early Infantile, 1 54 24 71 29 13 69
Infantile Epileptic-Dyskinetic Encephalopathy 24 56 71
Xmesid 24 71
Eiee1 24 71
Issx1 24 71
Myoclonic Epilepsy X-Linked with Intellectual Disability and Spasticity 71
X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome 56
Infantile Spasm Syndrome, X-Linked 1 24
Infantile Spasm Syndrome X-Linked 1 71
Ohtahara Syndrome, X-Linked 24
Ohtahara Syndrome X-Linked 71
West Syndrome, X-Linked 24
West Syndrome X-Linked 71

Characteristics:

Orphanet epidemiological data:

56
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:

54
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: 56  
Rare neurological diseases


Summaries for Epileptic Encephalopathy, Early Infantile, 1

OMIM : 54
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 mental retardation, x-linked 29 and others and west syndrome, and has symptoms including dysphagia, dystonia and ventriculomegaly. An important gene associated with Epileptic Encephalopathy, Early Infantile, 1 is ARX (Aristaless Related Homeobox). Affiliated tissues include brain.

UniProtKB/Swiss-Prot : 71 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, 18 Epileptic Encephalopathy, Early Infantile, 15
Epileptic Encephalopathy, Early Infantile, 23 Epileptic Encephalopathy, Early Infantile, 32
Epileptic Encephalopathy, Early Infantile, 38 Epileptic Encephalopathy, Early Infantile, 54
Epileptic Encephalopathy, Early Infantile, 50 Epileptic Encephalopathy, Early Infantile, 11
Epileptic Encephalopathy, Early Infantile, 6 Epileptic Encephalopathy, Early Infantile, 39
Epileptic Encephalopathy, Early Infantile, 44 Epileptic Encephalopathy, Early Infantile, 47
Epileptic Encephalopathy, Early Infantile, 45 Epileptic Encephalopathy, Early Infantile, 40
Epileptic Encephalopathy, Early Infantile, 24 Epileptic Encephalopathy, Early Infantile, 19
Epileptic Encephalopathy, Early Infantile, 51 Epileptic Encephalopathy, Early Infantile, 37
Epileptic Encephalopathy, Early Infantile, 5 Epileptic Encephalopathy, Early Infantile, 31
Epileptic Encephalopathy, Early Infantile, 4 Epileptic Encephalopathy, Early Infantile, 14
Epileptic Encephalopathy, Early Infantile, 3 Epileptic Encephalopathy, Early Infantile, 49
Epileptic Encephalopathy, Early Infantile, 41 Epileptic Encephalopathy, Early Infantile, 21
Epileptic Encephalopathy, Early Infantile, 27 Epileptic Encephalopathy, Early Infantile, 13
Epileptic Encephalopathy, Early Infantile, 43 Epileptic Encephalopathy, Early Infantile, 48
Epileptic Encephalopathy, Early Infantile, 16 Epileptic Encephalopathy, Early Infantile, 17
Epileptic Encephalopathy, Early Infantile, 29 Epileptic Encephalopathy, Early Infantile, 28
Epileptic Encephalopathy, Early Infantile, 25 Epileptic Encephalopathy, Early Infantile, 42
Epileptic Encephalopathy, Early Infantile, 52 Epileptic Encephalopathy, Early Infantile, 46
Epileptic Encephalopathy, Early Infantile, 12 Epileptic Encephalopathy, Early Infantile, 35
Epileptic Encephalopathy, Early Infantile, 34 Epileptic Encephalopathy, Early Infantile, 33
Epileptic Encephalopathy, Early Infantile, 26 Epileptic Encephalopathy, Early Infantile, 7
Epileptic Encephalopathy, Early Infantile, 55 Epileptic Encephalopathy, Early Infantile, 53
Epileptic Encephalopathy, Early Infantile, 30 Epileptic Encephalopathy, Early Infantile, 1
Epileptic Encephalopathy, Early Infantile, 2 Epileptic Encephalopathy, Early Infantile, 9
Epileptic Encephalopathy, Early Infantile, 8 Epileptic Encephalopathy, Early Infantile, 36

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

(show all 31)
id Related Disease Score Top Affiliating Genes
1 mental retardation, x-linked 29 and others 28.8 ARX KCNQ2 TBC1D24 WWOX
2 west syndrome 11.1
3 epileptic encephalopathy, early infantile, 3 10.6
4 epileptic encephalopathy, early infantile, 49 10.6
5 epileptic encephalopathy, early infantile, 27 10.6
6 epileptic encephalopathy, early infantile, 48 10.6
7 epileptic encephalopathy, early infantile, 16 10.6
8 epileptic encephalopathy, early infantile, 17 10.6
9 epileptic encephalopathy, early infantile, 52 10.6
10 microcephaly, seizures, and developmental delay 10.6
11 epileptic encephalopathy, early infantile, 53 10.6
12 lissencephaly, x-linked 2 10.6
13 epileptic encephalopathy, early infantile, 18 10.6
14 epileptic encephalopathy, early infantile, 11 10.6
15 proud syndrome 10.6
16 epileptic encephalopathy, early infantile, 6 10.6
17 epileptic encephalopathy, early infantile, 2 10.6
18 epileptic encephalopathy, early infantile, 47 10.6
19 partington syndrome 10.6
20 epileptic encephalopathy, early infantile, 37 10.6
21 epileptic encephalopathy, early infantile, 14 10.6
22 gingival disease 9.7 KCNQ2 TBC1D24
23 early onset absence epilepsy 9.6 KCNQ2 TBC1D24
24 autosomal dominant nonsyndromic deafness 9.5 KCNQ2 TBC1D24
25 epileptic encephalopathy, early infantile, 15 9.5 ARX KCNQ2
26 erythermalgia, primary 9.4 KCNQ2 TBC1D24
27 gaba aminotransferase deficiency 9.2 KCNQ2 TBC1D24
28 adolescence-adult electroclinical syndrome 9.2 ARX KCNQ2 TBC1D24
29 childhood electroclinical syndrome 9.2 ARX KCNQ2 TBC1D24
30 mononeuritis multiplex 9.1 ARX KCNQ2 TBC1D24
31 peyronie's disease 8.6 ARX KCNQ2 TBC1D24 WWOX

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:

54

Neurologic- Central Nervous System:
mental retardation
dystonia
hyperreflexia
spasticity
choreoathetosis
more
Respiratory:
dyspnea

Abdomen- Gastroin testinal:
dysphagia

Head And Neck- Head:
decreased head circumference


Clinical features from OMIM:

308350

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

32 (show all 13)
id Description HPO Frequency HPO Source Accession
1 dysphagia 32 HP:0002015
2 dystonia 32 HP:0001332
3 ventriculomegaly 32 HP:0002119
4 hyperreflexia 32 HP:0001347
5 spasticity 32 HP:0001257
6 choreoathetosis 32 HP:0001266
7 microcephaly 32 HP:0000252
8 hypsarrhythmia 32 HP:0002521
9 epileptic encephalopathy 32 HP:0200134
10 intellectual disability 32 HP:0001249
11 dyspnea 32 HP:0002094
12 generalized myoclonic seizures 32 HP:0002123
13 muscular hypotonia of the trunk 32 HP:0008936

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


dyspnea, muscle spasticity

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 1

Interventional clinical trials:


id 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:

id Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 1 29 24 ARX

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 1

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

39
Brain

Publications for Epileptic Encephalopathy, Early Infantile, 1

Variations for Epileptic Encephalopathy, Early Infantile, 1

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

71
id 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 all 16)
id 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) duplication Pathogenic rs387906493 GRCh37 Chromosome X, 25031661: 25031684
3 ARX NM_139058.2(ARX): c.1058C> T (p.Pro353Leu) single nucleotide variant Pathogenic rs104894743 GRCh37 Chromosome X, 25031054: 25031054
4 ARX ARX, 1,517-BP DEL deletion Pathogenic
5 ARX ARX, 33-BP DUP duplication Pathogenic
6 ARX ARX, 1-BP DEL, 1465G deletion Pathogenic
7 KCNQ2 NM_172107.3(KCNQ2): c.584_593delCTGCGCTCCGinsA (p.Ser195_Leu532delinsTer) indel Pathogenic rs118192197 GRCh37 Chromosome 20, 62076109: 62076118
8 ARX NM_139058.2(ARX) duplication Pathogenic rs587776869 GRCh37 Chromosome X, 25031651: 25031677
9 ARX NM_139058.2(ARX): c.81C> G (p.Tyr27Ter) single nucleotide variant Pathogenic rs398122854 GRCh37 Chromosome X, 25033774: 25033774
10 ARX NM_139058.2(ARX): c.1604T> A (p.Leu535Gln) single nucleotide variant Pathogenic rs387906715 GRCh37 Chromosome X, 25022872: 25022872
11 TBC1D24 NM_001199107.1(TBC1D24): c.1008delT (p.His336Glnfs) deletion Pathogenic rs398122967 GRCh37 Chromosome 16, 2548263: 2548263
12 ARX NM_139058.2(ARX): c.30C> A (p.Cys10Ter) single nucleotide variant Pathogenic rs794726959 GRCh37 Chromosome X, 25033825: 25033825
13 ARX NM_139058.2(ARX): c.1002_1007delGTTCACinsTGTACCA (p.Phe335Valfs) indel Pathogenic rs869312662 GRCh38 Chromosome X, 25012988: 25012993
14 WWOX NM_016373.3(WWOX): c.779C> G (p.Ser260Ter) single nucleotide variant Pathogenic rs878855021 GRCh38 Chromosome 16, 78425043: 78425043
15 WWOX NM_016373.3(WWOX): c.790C> T (p.Arg264Ter) single nucleotide variant Pathogenic rs756762196 GRCh37 Chromosome 16, 78458951: 78458951
16 WWOX NM_016373.3(WWOX): c.409+1G> C single nucleotide variant Likely pathogenic rs1060502727 GRCh38 Chromosome 16, 78115155: 78115155

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

Sources for Epileptic Encephalopathy, Early Infantile, 1

3 CDC
7 CNVD
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10 dbSNP
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43 MESH via Orphanet
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59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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