MCID: EPL221
MIFTS: 15

Epileptic Encephalopathy, Early Infantile, 62

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, 62

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

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

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


Classifications:



External Ids:

OMIM 57 617938

Summaries for Epileptic Encephalopathy, Early Infantile, 62

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).

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
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

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

Muscle Soft Tissue:
hypotonia

Head And Neck Head:
microcephaly (in some patients)

Abdomen Gastrointestinal:
dysphagia
poor feeding

Neurologic Central Nervous System:
epileptic encephalopathy
global developmental delay, severe to profound
seizures, multiple types, refractory
lack of speech
inability to walk
more

Clinical features from OMIM:

617938

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

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 62

Publications for Epileptic Encephalopathy, Early Infantile, 62

Variations for Epileptic Encephalopathy, Early Infantile, 62

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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