Details of Disease | DrugMAP

General Information of Disease (ID: DISPMANQ)

Disease Name	Infantile-onset epilepsy
Definition	Epilepsy starting in the first 12 months of life, including self-limiting and refractory seizures, and epilepsies with and without developmental disorders.\|Note, this differs from MONDO:0020071 'infantile epilepsy syndrome', as there are forms of this disease that do not have a syndromic presentation.
Disease Hierarchy	DISBB28L: Epilepsy DISPMANQ: Infantile-onset epilepsy

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
KCNH5	TTX8LQ0	Definitive	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
KCNH5	OTVAHEAQ	Definitive	Autosomal dominant	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.