SCN2A mutation presenting with autism and epilepsy

Case presentation: The parents of a 38 months-old male patient seek neurological consultation for refractory seizures. He was previously treated with phenobarbital 4,7mg/kg/day and valproate 41mg/kg/day febrile seizures that started at 30 months. described generalized myoclonic following staring. presented every 2 to 3 weeks when it added clobazam 0,55mg/kg/day, oxcarbazepine 33,3mg/kg/day cannabidiol 3,33mg/kg/day. diagnosed autism spectrum disorder after presenting speech regression the age 18 months old. There no known familiar history epilepsy. No metabolic found, only significant prenatal finding prematurity gestational 34 weeks. cryptorchidism. Electroencephalography recorded he 40 weeks-old normal. underwent genetic panel epilepsy, being discovered heterozygous variant SCN2A, chr2:165.313.721 G >A. seizure free least suspension dose adjustment both phenobarbital.