Details of Disease | DrugMAP

General Information of Disease (ID: DISF5P7A)

Disease Name	Seizures, benign familial infantile, 3
Synonyms	epilepsy, benign neonatal-infantile; benign familial infantile convulsions; BFIS3; convulsions benign familial neonatal; convulsions, benign familial infantile, 3; seizures, benign familial neonatal-infantile; BFNIS; SCN2A benign familial infantile epilepsy; benign familial neonatal-infantile seizures; benign neonatal-infantile epilepsy; seizures, benign familial infantile, type 3; benign familial infantile epilepsy caused by mutation in SCN2A; seizures, benign familial infantile, 3
Definition	Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN2A gene.
Disease Hierarchy	DISFYXOW: Benign familial infantile epilepsy DISF5P7A: Seizures, benign familial infantile, 3
Disease Identifiers	MONDO ID MONDO_0011904 MESH ID D020936 UMLS CUI C1843140 OMIM ID 607745 MedGen ID 375105 Orphanet ID 140927

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	Biomarker	[1]
SCN2A	TTLJTUF	Strong	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
SCN2A	OTUSYE4Z	Strong	Autosomal dominant	[2]
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References

1	Retigabine, a Kv7.2/Kv7.3-Channel Opener, Attenuates Drug-Induced Seizures in Knock-In Mice Harboring Kcnq2 Mutations.PLoS One. 2016 Feb 24;11(2):e0150095. doi: 10.1371/journal.pone.0150095. eCollection 2016.
2	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.