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seizures, benign familial infantile, 5

Disease Summary
Associated Targets (1)
Tclin

1


Mondo Description Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN8A 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. BFIS5 inheritance is autosomal dominant.
Mondo Term and Equivalent IDs
MONDO:0014903:  seizures, benign familial infantile, 5
UMLS:C4310728: