EIEE62
MCID: EPL221
MIFTS: 25

Epileptic Encephalopathy, Early Infantile, 62 (EIEE62)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Oral 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 56 73
Early Infantile Epileptic Encephalopathy 62 12 29 6
Eiee62 56 73
Encephalopathy, Epileptic, Early Infantile, Type 62 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
epileptic encephalopathy, early infantile, 62:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 62

UniProtKB/Swiss-Prot : 73 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 eye, bone and liver, and related phenotypes are microcephaly and polymicrogyria

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

More information from OMIM: 617938 PS308350

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
Epileptic Encephalopathy, Early Infantile, 75 Epileptic Encephalopathy, Early Infantile, 76
Epileptic Encephalopathy, Early Infantile, 77 Epileptic Encephalopathy, Early Infantile, 78
Epileptic Encephalopathy, Early Infantile, 79 Epileptic Encephalopathy, Early Infantile, 80
Epileptic Encephalopathy, Early Infantile, 81 Epileptic Encephalopathy, Early Infantile, 82
Epileptic Encephalopathy, Early Infantile, 83 Arx-Related Epileptic Encephalopathy

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 62

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

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 very rare (1%) HP:0000252
2 polymicrogyria 31 very rare (1%) HP:0002126
3 cerebral visual impairment 31 very rare (1%) HP:0100704
4 seizures 31 HP:0001250
5 failure to thrive 31 HP:0001508
6 dysphagia 31 HP:0002015
7 global developmental delay 31 HP:0001263
8 feeding difficulties 31 HP:0011968
9 spastic tetraplegia 31 HP:0002510
10 generalized hypotonia 31 HP:0001290
11 absent speech 31 HP:0001344
12 inability to walk 31 HP:0002540
13 epileptic encephalopathy 31 HP:0200134
14 hypsarrhythmia 31 HP:0002521
15 hypoplasia of the corpus callosum 31 HP:0002079

Symptoms via clinical synopsis from OMIM:

56
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 29 SCN3A

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 62

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

40
Eye, Bone, Liver

Publications for Epileptic Encephalopathy, Early Infantile, 62

Articles related to Epileptic Encephalopathy, Early Infantile, 62:

# Title Authors PMID Year
1
Mutations in SCN3A cause early infantile epileptic encephalopathy. 56 6
29466837 2018
2
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 6
23339110 2013
3
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 6
18487195 2008

Variations for Epileptic Encephalopathy, Early Infantile, 62

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCN3A NM_006922.4(SCN3A):c.3998C>T (p.Pro1333Leu)SNV Pathogenic 379838 rs1057520753 2:165954003-165954003 2:165097493-165097493
2 SCN3A NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr)SNV Pathogenic/Likely pathogenic 373960 rs1057518801 2:165986748-165986748 2:165130238-165130238
3 SCN3A NM_006922.4(SCN3A):c.5306T>C (p.Val1769Ala)SNV Likely pathogenic 521063 rs1553517274 2:165947357-165947357 2:165090847-165090847
4 SCN3A NM_006922.4(SCN3A):c.2947_2949TTG[1] (p.Leu984del)short repeat Likely pathogenic 801773 2:165984582-165984584 2:165128072-165128074
5 SCN3A NM_006922.4(SCN3A):c.2003G>A (p.Gly668Glu)SNV Conflicting interpretations of pathogenicity 194238 rs199975643 2:165997177-165997177 2:165140667-165140667
6 SCN3A NM_006922.4(SCN3A):c.3253A>G (p.Ile1085Val)SNV Uncertain significance 194858 rs144957412 2:165984281-165984281 2:165127771-165127771
7 SCN3A NM_006922.4(SCN3A):c.2021G>A (p.Gly674Asp)SNV Uncertain significance 240708 rs751294193 2:165996117-165996117 2:165139607-165139607
8 SCN3A NM_006922.4(SCN3A):c.2350A>G (p.Met784Val)SNV Uncertain significance 801774 2:165994430-165994430 2:165137920-165137920

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

73
# 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 rs155351727

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 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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