Details of Disease | DrugMAP

General Information of Disease (ID: DISS8AXB)

Disease Name	Developmental and epileptic encephalopathy, 78
Synonyms	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 78; EIEE78; epileptic encephalopathy, early infantile, 78; DEE78; developmental and epileptic encephalopathy 78
Disease Hierarchy	DISZOCA3: Epileptic encephalopathy DISS8AXB: Developmental and epileptic encephalopathy, 78
Disease Identifiers	MONDO ID MONDO_0032812 UMLS CUI C5231409 OMIM ID 618557 MedGen ID 1684724

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
GABRA2	TTBMV1G	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
GABRA2	OT9TZ2E0	Strong	Autosomal dominant	[1]
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References

1	A novel variant in GABRB2 associated with intellectual disability and epilepsy. Am J Med Genet A. 2014 Nov;164A(11):2914-21. doi: 10.1002/ajmg.a.36714. Epub 2014 Aug 13.