Benign familial infantile seizure (BFIS) is an autosomal dominant disease characterized by focal seizures, occurring mostly in clusters, and usually first seen between 4 and 8 months of life. Psychomotor development is normal, and seizures usually resolve within the first year of life. PRRT2 has been identified as the major gene found to be mutated in 80 to 90% of cases. Recently, mutations in the genes coding for the voltage-gated sodium channel subunits have been reported.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Headache disorders
8A80 Migraine
H02362 Benign familial infantile seizure
Berkovic SF, Heron SE, Giordano L, Marini C, Guerrini R, Kaplan RE, Gambardella A, Steinlein OK, Grinton BE, Dean JT, Bordo L, Hodgson BL, Yamamoto T, Mulley JC, Zara F, Scheffer IE
Title
Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy.