Details of Disease

General Information of Disease (ID: DISO2G9R)

Disease Name Developmental and epileptic encephalopathy, 62
Synonyms epileptic encephalopathy, early infantile, 62; EIEE62; developmental and epileptic encephalopathy 62; DEE62
Disease Hierarchy
DISZOCA3: Epileptic encephalopathy
DISO2G9R: Developmental and epileptic encephalopathy, 62
Disease Identifiers
MONDO ID
MONDO_0033371
UMLS CUI
C4693699
OMIM ID
617938
MedGen ID
1631233

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
SCN3A TTAXZ0K Strong Autosomal dominant [1]
SCN3A TTAXZ0K Strong Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SCN3A OT4C2LCB Strong Autosomal dominant [1]
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References

1 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. Genet Med. 2016 Sep;18(9):898-905. doi: 10.1038/gim.2015.186. Epub 2016 Jan 21.
2 Mutations in SCN3A cause early infantile epileptic encephalopathy. Ann Neurol. 2018 Apr;83(4):703-717. doi: 10.1002/ana.25188. Epub 2018 Mar 30.