Paroxysmal Choreoathetosis in a Child with Scn2a Mutation and Neonatal Seizures

SCN2A mutations are associated with a broad spectrum of neurological phenotypes ranging from neonatal or infantile seizures with normal development to epileptic encephalopathies with severe developmental delay. Recently, movement disorders in children with SCN2A mutations and epileptic encephalopathies including infantile spasms has been described [1,2]. We present a case of a typically developing girl with a history of neonatal seizures due to a novel de novo SCN2A mutation who developed paroxysmal, movement-induced choreoathetosis.