Details of Disease

General Information of Disease (ID: DISK16WB)

Disease Name Developmental and epileptic encephalopathy 94
Synonyms
CHD2 myoclonic encephalopathy; epileptic encephalopathy, childhood-onset; childhood-onset epileptic encephalopathy; CHCHD10-related disorders; childhood onset epileptic encephalopathy; developmental and epileptic encephalopathy 94; DEE94; EEOC
Definition
An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability.
Disease Hierarchy
DISOTGO5: LennoxGastaut syndrome
DISTAVMU: Myoclonic-astatic epilepsy
DISK16WB: Developmental and epileptic encephalopathy 94
Disease Identifiers
MONDO ID
MONDO_0014150
UMLS CUI
C3809278
OMIM ID
615369
MedGen ID
815608

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CHD2 OTRKL6YC Strong Autosomal dominant [1]
FMR1 OTWEV0T5 Strong Biomarker [2]
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References

1 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nat Genet. 2013 Jul;45(7):825-30. doi: 10.1038/ng.2646. Epub 2013 May 26.
2 Phosphorylation of FMRP and alterations of FMRP complex underlie enhanced mLTD in adult rats triggered by early life seizures.Neurobiol Dis. 2013 Nov;59:1-17. doi: 10.1016/j.nbd.2013.06.013. Epub 2013 Jul 2.