Details of Disease | DrugMAP

General Information of Disease (ID: DISYA1KR)

Disease Name	Seizures, benign familial infantile, 5
Synonyms	convulsions, benign familial infantile, 5; seizures, benign familial infantile, 5; benign familial infantile epilepsy caused by mutation in SCN8A; BFIS5; seizures, benign familial infantile, type 5; seizures, benign familial infantile, 5; BFIS5; SCN8A benign familial infantile epilepsy
Definition	Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN8A gene.
Disease Hierarchy	DISFYXOW: Benign familial infantile epilepsy DISYA1KR: Seizures, benign familial infantile, 5
Disease Identifiers	MONDO ID MONDO_0014903 UMLS CUI C4310728 OMIM ID 617080 MedGen ID 934695

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
SCN8A	TT54ERL	Limited	Biomarker	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SCN8A	DTIMSBJ	Strong	Autosomal dominant	[2]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SCN8A	OT0JGIZN	Strong	Autosomal dominant	[2]
------------------------------------------------------------------------------------

References

1	Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. Ann Neurol. 2016 Mar;79(3):428-36. doi: 10.1002/ana.24580. Epub 2016 Feb 13.
2	Autosomal dominant SCN8A mutation with an unusually mild phenotype. Eur J Paediatr Neurol. 2016 Sep;20(5):761-5. doi: 10.1016/j.ejpn.2016.04.015. Epub 2016 Apr 30.