SCN1B-related disorder is a phenotypically heterogeneous disease characterized by mainly autosomal dominant inheritance (though homozygous variants have been reported) often with incomplete penetrance which can result in multiple different epilepsy phenotypes including Genetic Epilepsy with Febrile Seizures Plus (GEFS+), Developmental and Epileptic encephalopathy (DEE), and early onset absence epilepsy. In addition, certain variants in SCN1Bresult in inherited cardiac arrhythmia conditions such as Brugada Syndrome and Atrial Fibrillation-13. Exact prevalence for this condition is unknown.
SCN1B