EIEE62
MCID: EPL221
MIFTS: 23

Epileptic Encephalopathy, Early Infantile, 62 (EIEE62)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic 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 58 76
Early Infantile Epileptic Encephalopathy 62 12 30 6
Eiee62 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
epileptic encephalopathy, early infantile, 62:
Onset and clinical course infantile onset


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 62

UniProtKB/Swiss-Prot : 76 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 polymicrogyria and seizures

Disease Ontology : 12 An early infantile epileptic encephalopathy that has material basis in heterozygous mutation in the SCN3A gene on chromosome 2q24.

Description from OMIM: 617938

Related Diseases for Epileptic Encephalopathy, Early Infantile, 62

Diseases in the Early 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, 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 Epileptic Encephalopathy, Early Infantile, 68
Epileptic Encephalopathy, Early Infantile, 69 Epileptic Encephalopathy, Early Infantile, 70
Epileptic Encephalopathy, Early Infantile, 71 Epileptic Encephalopathy, Early Infantile, 72
Epileptic Encephalopathy, Early Infantile, 73 Epileptic Encephalopathy, Early Infantile, 74

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 62

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

33 (show all 12)
# Description HPO Frequency HPO Source Accession
1 polymicrogyria 33 very rare (1%) HP:0002126
2 seizures 33 HP:0001250
3 failure to thrive 33 HP:0001508
4 dysphagia 33 HP:0002015
5 global developmental delay 33 HP:0001263
6 spastic tetraplegia 33 HP:0002510
7 feeding difficulties 33 HP:0011968
8 absent speech 33 HP:0001344
9 inability to walk 33 HP:0002540
10 epileptic encephalopathy 33 HP:0200134
11 hypsarrhythmia 33 HP:0002521
12 hypoplasia of the corpus callosum 33 HP:0002079

Symptoms via clinical synopsis from OMIM:

58
Growth Other:
failure to thrive
poor overall growth

Neurologic Central Nervous System:
spastic tetraplegia
inability to walk
epileptic encephalopathy
hypsarrhythmia
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

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 30 SCN3A

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 62

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

42
Liver, Eye

Publications for Epileptic Encephalopathy, Early Infantile, 62

Articles related to Epileptic Encephalopathy, Early Infantile, 62:

# Title Authors Year
1
Mutations in SCN3A cause early infantile epileptic encephalopathy. ( 29466837 )
2018

Variations for Epileptic Encephalopathy, Early Infantile, 62

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

76
# Symbol AA change Variation ID SNP ID
1 SCN3A p.Ile875Thr VAR_080506 rs105751880
2 SCN3A p.Pro1333Leu VAR_080508 rs105752075
3 SCN3A p.Val1769Ala VAR_080511

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

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN3A NM_006922.3(SCN3A): c.2003G> A (p.Gly668Glu) single nucleotide variant Uncertain significance rs199975643 GRCh37 Chromosome 2, 165997177: 165997177
2 SCN3A NM_006922.3(SCN3A): c.2003G> A (p.Gly668Glu) single nucleotide variant Uncertain significance rs199975643 GRCh38 Chromosome 2, 165140667: 165140667
3 SCN3A NM_006922.3(SCN3A): c.3253A> G (p.Ile1085Val) single nucleotide variant Uncertain significance rs144957412 GRCh37 Chromosome 2, 165984281: 165984281
4 SCN3A NM_006922.3(SCN3A): c.3253A> G (p.Ile1085Val) single nucleotide variant Uncertain significance rs144957412 GRCh38 Chromosome 2, 165127771: 165127771
5 SCN3A NM_006922.3(SCN3A): c.2021G> A (p.Gly674Asp) single nucleotide variant Uncertain significance rs751294193 GRCh37 Chromosome 2, 165996117: 165996117
6 SCN3A NM_006922.3(SCN3A): c.2021G> A (p.Gly674Asp) single nucleotide variant Uncertain significance rs751294193 GRCh38 Chromosome 2, 165139607: 165139607
7 SCN3A NM_006922.3(SCN3A): c.2624T> C (p.Ile875Thr) single nucleotide variant Likely pathogenic rs1057518801 GRCh37 Chromosome 2, 165986748: 165986748
8 SCN3A NM_006922.3(SCN3A): c.2624T> C (p.Ile875Thr) single nucleotide variant Likely pathogenic rs1057518801 GRCh38 Chromosome 2, 165130238: 165130238
9 SCN3A NM_006922.3(SCN3A): c.3998C> T (p.Pro1333Leu) single nucleotide variant Pathogenic rs1057520753 GRCh38 Chromosome 2, 165097493: 165097493
10 SCN3A NM_006922.3(SCN3A): c.3998C> T (p.Pro1333Leu) single nucleotide variant Pathogenic rs1057520753 GRCh37 Chromosome 2, 165954003: 165954003
11 SCN3A NM_006922.3(SCN3A): c.5306T> C (p.Val1769Ala) single nucleotide variant Likely pathogenic rs1553517274 GRCh37 Chromosome 2, 165947357: 165947357
12 SCN3A NM_006922.3(SCN3A): c.5306T> C (p.Val1769Ala) single nucleotide variant Likely pathogenic rs1553517274 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
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
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31 HGMD
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
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75 UMLS via Orphanet
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