Ketogenic Diet in Infants with Early-Onset Epileptic Encephalopathy and SCN2A Mutation.

Abstract excerpt

Research has shown mutations in the voltage-gated sodium channel gene SCN2A to be associated with developmental delays and infantile seizures in patients with early-onset epileptic encephalopathies (EOEEs). Here, we report the case of an infant with a de novo SCN2A mutation with EOEE who had medically refractory seizures that improved with a ketogenic diet (KD) implemented at an age less than 2 months. On the day...

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• Brain
• Diet, Ketogenic
• Infant
• Mutation
• NAV1.2 Voltage-Gated Sodium Channel