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BFIS1

Chr 19AD

benign familial infantile convulsions

Also known as: BFIC, BFIC1

NCBI Gene: 8181 OMIM: 601764

The protein encoded by this gene functions in neuronal excitability and seizure threshold regulation. Mutations cause benign familial infantile seizures with onset typically in the first year of life, characterized by clusters of seizures that generally resolve spontaneously without long-term neurological sequelae. The condition follows autosomal dominant inheritance with high penetrance.

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AD1 OMIM phenotype

Clinical Summary— BFIS1

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Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/BFIS1?content-type=application/json&expand=1

gnomad: Error: Gene not found