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seizures, benign familial infantile, 3

Disease Summary
Associated Targets (2)
Tclin

2


Mondo Description Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN2A gene.
Uniprot Description A form of benign familial infantile epilepsy, a neurologic disorder characterized by afebrile seizures occurring in clusters during the first year of life, without neurologic sequelae. BFIS3 inheritance is autosomal dominant.
Mondo Term and Equivalent IDs
MONDO:0011904:  seizures, benign familial infantile, 3
UMLS:C1843140: