Details of Disease | DrugMAP

General Information of Disease (ID: DIS2O53U)

Disease Name	Seizures, benign familial neonatal, 1
Synonyms	epilepsy, benign neonatal, 1, and/or myokymia; seizures, benign familial neonatal, 1, and/or myokymia; BFNS1; myokymia; KCNQ2 benign neonatal seizures; seizures, benign familial neonatal, type 1; seizures, benign neonatal, 1; seizures, benign familial neonatal, 1; benign neonatal seizures caused by mutation in KCNQ2
Definition	Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ2 gene.
Disease Hierarchy	DISWNBHF: Benign neonatal seizures DIS2O53U: Seizures, benign familial neonatal, 1
Disease Identifiers	MONDO ID MONDO_0007365 UMLS CUI C3149074 OMIM ID 121200 MedGen ID 460425

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KCNQ2	TTPXI3S	Limited	Genetic Variation	[1]
KCNQ2	TTPXI3S	Definitive	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KCNQ2	OT3CXQJT	Definitive	Autosomal dominant	[2]
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References

1	Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.J Med Genet. 2016 May;53(5):310-7. doi: 10.1136/jmedgenet-2015-103263. Epub 2016 Mar 18.
2	Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions. Hum Genet. 1999 Mar;104(3):234-40. doi: 10.1007/pl00008713.