Severe epilepsy, retardation, and dysmorphic features with a 2q deletion including SCN1A and SCN2A

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Abstract
She first had epileptic seizures at age 2 months, which were predominantly tonic and asymmetric, involved the left or right limb and face, and were accompanied by severe apnea and cyanosis. Seizures were brief and responded temporarily to phenobarbital. She subsequently had multiple seizures and status epilepticus lasting 2 to 3 days and occurring in clusters. Seizure-free intervals lasted 4 days to 3 weeks. Within a few months the seizure pattern became clonic, multifocal, and migratory. Neurologic and developmental assessment became abnormal at age 2 months. Visual behavior was abnormal with no consistent fixation or tracking. Response to sounds was questionable, and suction was poor. She had poor …