Details of Disease

General Information of Disease (ID: DISPGDAA)

Disease Name Developmental and epileptic encephalopathy, 43
Synonyms
developmental and epileptic encephalopathy 43; epileptic encephalopathy, early infantile, 43; EIEE43; epileptic encephalopathy, early infantile, type 43; GABRB3 early infantile epileptic encephalopathy; epileptic encephalopathy, early infantile, 43; EIEE43; DEE43; early infantile epileptic encephalopathy caused by mutation in GABRB3
Definition Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB3 gene.
Disease Hierarchy
DISOTGO5: LennoxGastaut syndrome
DISZOCA3: Epileptic encephalopathy
DISPGDAA: Developmental and epileptic encephalopathy, 43
Disease Identifiers
MONDO ID
MONDO_0014921
UMLS CUI
C4310712
OMIM ID
617113
MedGen ID
934679

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
GABRB3 OT80C3D4 Definitive Autosomal dominant [1]
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References

1 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.