Details of Disease

General Information of Disease (ID: DISVNVOO)

Disease Name Developmental and epileptic encephalopathy, 74
Synonyms DEE74; EIEE74; epileptic encephalopathy, early infantile, 74; developmental and epileptic encephalopathy 74; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 74
Disease Hierarchy
DISZOCA3: Epileptic encephalopathy
DISVNVOO: Developmental and epileptic encephalopathy, 74
Disease Identifiers
MONDO ID
MONDO_0032725
UMLS CUI
C5193074
OMIM ID
618396
MedGen ID
1680535

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GABRG2 TT06RH5 Strong Autosomal dominant [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GABRG2 OTGNDWUO Strong Autosomal dominant [1]
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References

1 De novo GABRG2 mutations associated with epileptic encephalopathies. Brain. 2017 Jan;140(1):49-67. doi: 10.1093/brain/aww272. Epub 2016 Nov 17.