Details of Disease | DrugMAP

General Information of Disease (ID: DISQQLYN)

Disease Name	Developmental and epileptic encephalopathy, 45
Synonyms	early infantile epileptic encephalopathy caused by mutation in GABRB1; DEE45; epileptic encephalopathy, early infantile, 45; EIEE45; epileptic encephalopathy, early infantile, type 45; developmental and epileptic encephalopathy 45; GABRB1 early infantile epileptic encephalopathy; EIEE45; epileptic encephalopathy, early infantile, 45
Definition	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB1 gene.
Disease Hierarchy	DISISEI2: Undetermined early-onset epileptic encephalopathy DIS8837Y: Neonatal-onset developmental and epileptic encephalopathy DISZOCA3: Epileptic encephalopathy DISQQLYN: Developmental and epileptic encephalopathy, 45
Disease Identifiers	MONDO ID MONDO_0014942 UMLS CUI C4310691 OMIM ID 617153 MedGen ID 934658

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
GABRB1	OT4L2SSB	Strong	Autosomal dominant	[1]
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References

1	Epileptic encephalopathy de novo GABRB mutations impair -aminobutyric acid type A receptor function. Ann Neurol. 2016 May;79(5):806-825. doi: 10.1002/ana.24631.