Details of Disease

General Information of Disease (ID: DISOSZDB)

Disease Name Developmental and epileptic encephalopathy, 65
Synonyms EIEE65; epileptic encephalopathy, early infantile, 65; developmental and epileptic encephalopathy 65; DEE65
Disease Hierarchy
DISZOCA3: Epileptic encephalopathy
DISOSZDB: Developmental and epileptic encephalopathy, 65
Disease Identifiers
MONDO ID
MONDO_0033374
UMLS CUI
C4693925
OMIM ID
618008
MedGen ID
1634676

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CYFIP2 OTCAY35T Strong Autosomal dominant [1]
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References

1 De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy. Ann Neurol. 2018 Apr;83(4):794-806. doi: 10.1002/ana.25208.