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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Advocacy Organizations

FamilieSCN2A Foundation

We are an organization created by parents of children diagnosed with rare forms of Epilepsy and Autism as a result of a change in the SCN2A gene. Our vision is to find effective treatments and a cure for SCN2A related disorders. Our mission is to improve the lives of those affected by SCN2A related disorders through research, public awareness, family support and patient advocacy.

Clinical Trials

For a list of clinical trials in this disease area, please click here.