Details of Disease | DrugMAP

General Information of Disease (ID: DISFYXOW)

Disease Name	Benign familial infantile epilepsy
Synonyms	benign familial infantile convulsions; seizures, benign familial infantile; benign familial infantile convulsion; benign familial infantile seizures; BFIS; BFIE; BFIC
Definition	Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.
Disease Hierarchy	DIS0XQ6F: Benign partial infantile seizures DISD715V: Hereditary neurological disease DIS9KIBQ: Infancy electroclinical syndrome DISFYXOW: Benign familial infantile epilepsy
Disease Identifiers	MONDO ID MONDO_0017615 UMLS CUI C5575231 MedGen ID 1806836 Orphanet ID 306

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CHRNA2	TTF4E0J	Disputed	Autosomal dominant	[1]
KCNQ2	TTPXI3S	Supportive	Autosomal dominant	[2]
KCNQ3	TTIVDM3	Supportive	Autosomal dominant	[3]
SCN2A	TTLJTUF	Supportive	Autosomal dominant	[3]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SCN8A	DTIMSBJ	Supportive	Autosomal dominant	[4]
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This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CHRNA2	OTVQQSMK	Disputed	Autosomal dominant	[1]
KCNQ2	OT3CXQJT	Supportive	Autosomal dominant	[2]
KCNQ3	OTXVBEED	Supportive	Autosomal dominant	[3]
PRRT2	OTCJUBDO	Supportive	Autosomal dominant	[5]
SCN2A	OTUSYE4Z	Supportive	Autosomal dominant	[3]
SCN8A	OT0JGIZN	Supportive	Autosomal dominant	[4]
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⏷ Show the Full List of 6 DOT(s)

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.
2	Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.
3	Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance. Epilepsia. 2013 Mar;54(3):425-36. doi: 10.1111/epi.12089. Epub 2013 Jan 29.
4	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.
5	PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. Am J Hum Genet. 2012 Jan 13;90(1):152-60. doi: 10.1016/j.ajhg.2011.12.003.