MCID: EPL037
MIFTS: 36

Epileptic Encephalopathy, Early Infantile, 1

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 1

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

Name: Epileptic Encephalopathy, Early Infantile, 1 53 24 71 28 13 69
Infantile Epileptic-Dyskinetic Encephalopathy 53 24 55 71
Eiee1 53 24 71
Issx1 53 24 71
X-Linked Infantile Spasm Syndrome 24 69
Xmesid 53 71
Myoclonic Epilepsy X-Linked with Intellectual Disability and Spasticity 71
X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome 55
Infantile Spasm Syndrome, X-Linked 1; Issx1 53
Early Infantile Epileptic Encephalopathy 1 24
Early Infantile Epileptic Encephalopathy-1 24
Infantile Spasm Syndrome, X-Linked 1 53
X-Linked Infantile Spasm Syndrome 1 24
Infantile Spasm Syndrome X-Linked 1 71
Ohtahara Syndrome, X-Linked 53
X-Linked Ohtahara Syndrome 24
Ohtahara Syndrome X-Linked 71
West Syndrome, X-Linked 53
X-Linked West Syndrome 24
West Syndrome X-Linked 71
Issx 24

Characteristics:

Orphanet epidemiological data:

55
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:

53
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:

31
epileptic encephalopathy, early infantile, 1:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 55  
Rare neurological diseases


Summaries for Epileptic Encephalopathy, Early Infantile, 1

OMIM : 53 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, 15 and epileptic encephalopathy, early infantile, 6, and has symptoms including hemiplegia, intellectual disability and spasticity. An important gene associated with Epileptic Encephalopathy, Early Infantile, 1 is ARX (Aristaless Related Homeobox). Affiliated tissues include brain.

Genetics Home Reference : 24 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 : 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, 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

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

(show all 33)
# Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, early infantile, 15 31.2 ARX KCNQ2
2 epileptic encephalopathy, early infantile, 6 30.4 KCNQ2 TBC1D24
3 west syndrome 30.2 ARX KCNQ2 TBC1D24 WWOX
4 corpus callosum, agenesis of, with abnormal genitalia 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, 2 10.7
8 partington x-linked mental retardation syndrome 10.7
9 epileptic encephalopathy, early infantile, 3 10.7
10 microcephaly, seizures, and developmental delay 10.7
11 epileptic encephalopathy, early infantile, 11 10.7
12 epileptic encephalopathy, early infantile, 14 10.7
13 epileptic encephalopathy, early infantile, 16 10.7
14 epileptic encephalopathy, early infantile, 17 10.7
15 epileptic encephalopathy, early infantile, 18 10.7
16 epileptic encephalopathy, early infantile, 27 10.7
17 epileptic encephalopathy, early infantile, 37 10.7
18 epileptic encephalopathy, early infantile, 47 10.7
19 epileptic encephalopathy, early infantile, 48 10.7
20 epileptic encephalopathy, early infantile, 49 10.7
21 epileptic encephalopathy, early infantile, 52 10.7
22 epileptic encephalopathy, early infantile, 53 10.7
23 epileptic encephalopathy, early infantile, 56 10.7
24 epileptic encephalopathy, early infantile, 58 10.7
25 iqsec2 10.0
26 benign familial neonatal epilepsy 9.7 KCNQ2 TBC1D24
27 childhood electroclinical syndrome 9.7 KCNQ2 TBC1D24
28 lennox-gastaut syndrome 9.6 KCNQ2 TBC1D24
29 infancy electroclinical syndrome 9.4 ARX KCNQ2 TBC1D24
30 neonatal period electroclinical syndrome 9.4 ARX KCNQ2 TBC1D24
31 generalized epilepsy with febrile seizures plus 9.4 KCNQ2 TBC1D24
32 epilepsy, idiopathic generalized 9.3 ARX KCNQ2 TBC1D24
33 epilepsy 9.3 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:

53
Respiratory:
dyspnea

Abdomen Gastroin testinal:
dysphagia

Neurologic Central Nervous System:
dystonia
spasticity
hyperreflexia
hypertonia
choreoathetosis
more
Head And Neck Head:
decreased head circumference


Clinical features from OMIM:

308350

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

55 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hemiplegia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002301
2 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
3 spasticity 55 31 hallmark (90%) Very frequent (99-80%) HP:0001257
4 rigidity 55 31 hallmark (90%) Very frequent (99-80%) HP:0002063
5 status epilepticus 55 31 hallmark (90%) Very frequent (99-80%) HP:0002133
6 muscle stiffness 55 31 hallmark (90%) Very frequent (99-80%) HP:0003552
7 dyspnea 31 HP:0002094
8 dystonia 31 HP:0001332
9 hyperreflexia 31 HP:0001347
10 dysphagia 31 HP:0002015
11 microcephaly 31 HP:0000252
12 hypertonia 55 Very frequent (99-80%)
13 generalized myoclonic seizures 31 HP:0002123
14 ventriculomegaly 31 HP:0002119
15 choreoathetosis 31 HP:0001266
16 hypsarrhythmia 31 HP:0002521
17 epileptic encephalopathy 31 HP:0200134
18 muscular hypotonia of the trunk 31 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 28 ARX

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 1

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

38
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:

71
# 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 19)
# 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): c.1058C> T (p.Pro353Leu) single nucleotide variant Pathogenic rs104894743 GRCh37 Chromosome X, 25031054: 25031054
3 ARX ARX, 1,517-BP DEL deletion Pathogenic
4 ARX ARX, 33-BP DUP duplication Pathogenic
5 ARX ARX, 1-BP DEL, 1465G deletion Pathogenic
6 KCNQ2 NM_172107.3(KCNQ2): c.584_593delCTGCGCTCCGinsA (p.Ser195_Leu532delinsTer) indel Pathogenic rs118192197 GRCh37 Chromosome 20, 62076109: 62076118
7 ARX NM_139058.2(ARX) duplication Pathogenic rs587776869 GRCh37 Chromosome X, 25031651: 25031677
8 ARX NM_139058.2(ARX): c.81C> G (p.Tyr27Ter) single nucleotide variant Pathogenic rs398122854 GRCh37 Chromosome X, 25033774: 25033774
9 ARX NM_139058.2(ARX): c.1604T> A (p.Leu535Gln) single nucleotide variant Pathogenic rs387906715 GRCh37 Chromosome X, 25022872: 25022872
10 TBC1D24 NM_001199107.1(TBC1D24): c.1008delT (p.His336Glnfs) deletion Pathogenic rs398122967 GRCh37 Chromosome 16, 2548263: 2548263
11 ARX NM_139058.2(ARX): c.30C> A (p.Cys10Ter) single nucleotide variant Pathogenic rs794726959 GRCh37 Chromosome X, 25033825: 25033825
12 ARX NM_139058.2(ARX): c.1002_1007delGTTCACinsTGTACCA (p.Phe335Valfs) indel Pathogenic rs869312662 GRCh38 Chromosome X, 25012988: 25012993
13 WWOX NM_016373.3(WWOX): c.779C> G (p.Ser260Ter) single nucleotide variant Pathogenic rs878855021 GRCh37 Chromosome 16, 78458940: 78458940
14 WWOX NM_016373.3(WWOX): c.790C> T (p.Arg264Ter) single nucleotide variant Pathogenic rs756762196 GRCh38 Chromosome 16, 78425054: 78425054
15 WWOX NM_016373.3(WWOX): c.409+1G> C single nucleotide variant Likely pathogenic rs1060502727 GRCh38 Chromosome 16, 78115155: 78115155
16 WWOX NC_000016.10: g.(?_78318746)_(78386940_?)dup duplication Pathogenic GRCh38 Chromosome 16, 78318746: 78386940
17 WWOX NC_000016.10: g.(?_78424850)_(78425075_?)del deletion Likely pathogenic GRCh38 Chromosome 16, 78424850: 78425075
18 TBC1D24 NC_000016.10: g.(?_2496129)_(2500978_?)del deletion Pathogenic GRCh38 Chromosome 16, 2496129: 2500978
19 ARX NM_139058.2(ARX) duplication Pathogenic GRCh37 Chromosome X, 25031654: 25031686

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
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....