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

Deleterious variants in the voltage-gated sodium channel type 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.To further elucidate the genotype-phenotype correlation of SCN2A variants we...