EIEE62
MCID: EPL221
MIFTS: 23

Epileptic Encephalopathy, Early Infantile, 62 (EIEE62)

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, 62

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 62:

Name: Epileptic Encephalopathy, Early Infantile, 62 57 75
Early Infantile Epileptic Encephalopathy 62 29 6
Eiee62 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
four unrelated patients have been reported (last curated april 2018)


HPO:

32
epileptic encephalopathy, early infantile, 62:
Onset and clinical course infantile onset


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 62

UniProtKB/Swiss-Prot : 75 Epileptic encephalopathy, early infantile, 62: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE62 is characterized by onset of seizures in the first year of life.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 62, is also known as early infantile epileptic encephalopathy 62. An important gene associated with Epileptic Encephalopathy, Early Infantile, 62 is SCN3A (Sodium Voltage-Gated Channel Alpha Subunit 3). Affiliated tissues include liver and eye, and related phenotypes are seizures and failure to thrive

Description from OMIM: 617938

Related Diseases for Epileptic Encephalopathy, Early Infantile, 62

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

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 62

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive
poor overall growth

Neurologic Central Nervous System:
spastic tetraplegia
inability to walk
hypsarrhythmia
epileptic encephalopathy
thin corpus callosum
more
Head And Neck Head:
microcephaly (in some patients)

Abdomen Gastrointestinal:
dysphagia
poor feeding

Muscle Soft Tissue:
hypotonia

Head And Neck Eyes:
cortical blindness (in some patients)


Clinical features from OMIM:

617938

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 62:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 failure to thrive 32 HP:0001508
3 dysphagia 32 HP:0002015
4 global developmental delay 32 HP:0001263
5 spastic tetraplegia 32 HP:0002510
6 feeding difficulties 32 HP:0011968
7 absent speech 32 HP:0001344
8 inability to walk 32 HP:0002540
9 polymicrogyria 32 very rare (1%) HP:0002126
10 hypoplasia of the corpus callosum 32 HP:0002079
11 hypsarrhythmia 32 HP:0002521
12 epileptic encephalopathy 32 HP:0200134

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 62

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 62

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 62

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 62:

# Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy 62 29 SCN3A

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 62

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 62:

41
Liver, Eye

Publications for Epileptic Encephalopathy, Early Infantile, 62

Variations for Epileptic Encephalopathy, Early Infantile, 62

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 62:

75
# Symbol AA change Variation ID SNP ID
1 SCN3A p.Ile875Thr VAR_080506 rs105751880
2 SCN3A p.Pro1333Leu VAR_080508
3 SCN3A p.Val1769Ala VAR_080511

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 62:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN3A NM_006922.3(SCN3A): c.2624T> C (p.Ile875Thr) single nucleotide variant Likely pathogenic rs1057518801 GRCh37 Chromosome 2, 165986748: 165986748
2 SCN3A NM_006922.3(SCN3A): c.2624T> C (p.Ile875Thr) single nucleotide variant Likely pathogenic rs1057518801 GRCh38 Chromosome 2, 165130238: 165130238
3 SCN3A NM_006922.3(SCN3A): c.3998C> T (p.Pro1333Leu) single nucleotide variant Pathogenic rs1057520753 GRCh37 Chromosome 2, 165954003: 165954003
4 SCN3A NM_006922.3(SCN3A): c.3998C> T (p.Pro1333Leu) single nucleotide variant Pathogenic rs1057520753 GRCh38 Chromosome 2, 165097493: 165097493
5 SCN3A NM_006922.3(SCN3A): c.5306T> C (p.Val1769Ala) single nucleotide variant Likely pathogenic GRCh37 Chromosome 2, 165947357: 165947357
6 SCN3A NM_006922.3(SCN3A): c.5306T> C (p.Val1769Ala) single nucleotide variant Likely pathogenic GRCh38 Chromosome 2, 165090847: 165090847

Expression for Epileptic Encephalopathy, Early Infantile, 62

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 62.

Pathways for Epileptic Encephalopathy, Early Infantile, 62

GO Terms for Epileptic Encephalopathy, Early Infantile, 62

Sources for Epileptic Encephalopathy, Early Infantile, 62

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
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