Benign familial neonatal-infantile seizures

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Benign familial neonatal-infantile seizures

Synonyms: BFNIS | Benign neonatal-infantile epilepsy

Benign familial neonatal-infantile seizures (BFNIS) is a benign familial epilepsy syndrome with an intermediate phenotype between benign familial neonatal seizures (BFNS) and benign familial infantile seizures (BFIS; see these terms). So far this syndrome has been described in multiple members of 10 families. Age of onset in these BFNIS families varied from 2 days to 6 months with spontaneous resolution in most cases before the age of 12 months. Like BFNS and BFIS seizures in BFNIS generally occur in clusters over one or a few days with posterior focal seizure onset. BFNIS is caused by mutations in the SCN2A gene (2q24.3) encoding the voltage-gated sodium channel alpha-subunit Na(V)1.2. Transmission is autosomal dominant.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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