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 April 2024
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
FamilieSCN2A Foundation
"Families" is part of our name for a reason. Rare and devastating, SCN2A-related disorders affect the entire family. Our VISION is a world with effective treatments and cures for all SCN2A-related disorders. Our MISSION is to accelerate research, build community and advocate to improve the lives of those affected by SCN2A-related disorders around the world.
Genetic Epilepsy Team Australia
Collaboration of research and care
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
SCN2A Asia Pacfic
To improve outcomes for families impacted by SCN2A through research and outreach programs
SCN2A Georgian Association
Spread awareness and to help families impacted by scn2a
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
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