{Reference Type}: Case Reports
{Title}: Are SCN2A-related BFNISs also responsible for seizures in adulthood? A case report opens new scenarios.
{Author}: Brunetti S;Muda A;Conti C;Gazzina S;Accorsi P;Giordano L;
{Journal}: Am J Med Genet A
{Volume}: 0
{Issue}: 0
{Year}: 2024 Jul 8
{Factor}: 2.578
{DOI}: 10.1002/ajmg.a.63813
{Abstract}: Large cohort studies and variant-specific electrophysiology have enabled the delineation of different SCN2A-epilepsy phenotypes, phenotype-genotype correlations, prediction of pharmacosensitivity to sodium channel blockers, and long-term prognostication for clinicians and families. One of the most common clinical presentations of SCN2A pathological variants is benign familial neonatal-infantile seizures (BFNIS), which are characterized by seizure onset between the first day of life and 23 months of age and typically resolve, either spontaneously or with the aid of sodium channel blockers, within the first 2 years of life. In 2004, Berkovic et al. reported the case of a young boy affected by SCN2A-related BFNIS whose mother, who carried the same pathological variant, had also presented with BFNIS in infancy. Our case report focuses on the aforementioned woman who, more than 40 years later, presented two additional seizures, therefore opening the possibility of a role for SCN2A-related seizures in adulthood.