Benign familial neonatal-infantile seizures

Alternate names

BFNIS; Convulsions benign familial neonatal; Epilepsy, benign neonatal-infantile; Benign familial infantile convulsions

Definition

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)

Epidemiology

So far, this syndrome has been described in multiple members of 10 families.

Onset

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.

Cause

BFNIS is caused by mutations in the SCN2A gene (2q24.3), encoding the voltage-gated sodium channel alpha-subunit Na(V)1.2.

Inheritance

Autosomal dominant pattern, a 50/50 chance.

Transmission is autosomal dominant.

NIH genetic and rare disease info

• NIH info on Benign familial neonatal-infantile seizures

Benign familial neonatal-infantile seizures is a rare disease.

Resources

Frequently asked questions

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