A Novel Splicing SCN2A Mutation in an Adolescent With Low-Functioning Autism, Acute Dystonic Movement Disorder, and Late-Onset Generalized Epilepsy

Abstract

Pathogenic variants in SCN2A have been associated to a wide spectrum of neurodevelopmental disorders, including developmental and epileptic encephalopathy (DEE), self-limited familial neonatal-infantile epilepsy, autism spectrum disorder (ASD), and intellectual disability (ID) with and without epilepsy.1 Movement disorders such as dystonia, dyskinesia, choreoathetosis, opisthotonos, and oculogyric crisis are described in about 11% to 84% of patients with SCN2A mutations.2