Details of Disease | DrugMAP

General Information of Disease (ID: DISYKM6G)

Disease Name	Childhood-onset epilepsy syndrome
Synonyms	pediatric epilepsy syndrome; epilepsy syndrome of childhood; childhood epilepsy syndrome; childhood-onset epilepsy syndrome; paediatric epilepsy syndrome
Definition	A epilepsy syndrome that occurs during childhood.\|This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html.
Disease Hierarchy	DISLYXJ3: Epilepsy syndrome DISYKM6G: Childhood-onset epilepsy syndrome
Disease Identifiers	MONDO ID MONDO_0020072 UMLS CUI C5681526 MedGen ID 1843031 Orphanet ID 98259

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
KCNT1	DTTHWCM	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
KCNT1	OTIFGW9Z	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.