Details of Disease | DrugMAP

General Information of Disease (ID: DIS10IB8)

Disease Name	Developmental and epileptic encephalopathy, 79
Synonyms	DEE79; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 79; developmental and epileptic encephalopathy 79; epileptic encephalopathy, early infantile, 79; EIEE79
Disease Hierarchy	DISZOCA3: Epileptic encephalopathy DIS10IB8: Developmental and epileptic encephalopathy, 79
Disease Identifiers	MONDO ID MONDO_0032813 UMLS CUI C5231410 OMIM ID 618559 MedGen ID 1684738

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
GABRA5	TTNZPQ1	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
GABRA5	OTBIKWQT	Strong	Autosomal dominant	[1]
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References

1	Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population. PLoS One. 2016 Sep 13;11(9):e0162883. doi: 10.1371/journal.pone.0162883. eCollection 2016.