Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes

Background Deleterious variants in the voltage-gated sodium channeltype 2 (Nav1.2) lead to a broad spectrum of phenotypes ranging from benign familial neonatal-infantile epilepsy (BFNIE), severe developmental and epileptic encephalopathy(DEE) and intellectual disability(ID) to autism spectrum disorders(ASD). Yet, the underlying mechanisms are still incompletely understood.