Details of Disease

General Information of Disease (ID: DIS5NN8A)

Disease Name Developmental and epileptic encephalopathy, 11
Synonyms
EIEE11; epileptic encephalopathy, early infantile, type 11; early infantile epileptic encephalopathy caused by mutation in SCN2A; DEE11; developmental and epileptic encephalopathy 11; epileptic encephalopathy, early infantile, 11; SCN2A early infantile epileptic encephalopathy
Definition Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN2A gene.
Disease Hierarchy
DISZOCA3: Epileptic encephalopathy
DIS5NN8A: Developmental and epileptic encephalopathy, 11
Disease Identifiers
MONDO ID
MONDO_0013388
UMLS CUI
C3150987
OMIM ID
613721
MedGen ID
462337

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
SCN2A TTLJTUF moderate Genetic Variation [1]
SCN2A TTLJTUF Definitive Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SCN2A OTUSYE4Z Definitive Autosomal dominant [2]
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References

1 Ketogenic diet as a successful early treatment modality for SCN2A mutation.Brain Dev. 2019 Apr;41(4):389-391. doi: 10.1016/j.braindev.2018.10.015. Epub 2018 Nov 8.
2 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.