Ketogenic Diet in Infants with Early-Onset Epileptic Encephalopathy and SCN2A Mutation
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Research has shown mutations in the voltage-gated sodium channel gene SCN2A to be associated with developmental delaysand infantile seizures in patients with early-onset epileptic encephalopathies (EOEEs). Here, we report the case of an infant witha de novo SCN2A mutation with EOEE who had medically refractory seizures that improved with a ketogenic diet (KD) implementedat an age less than 2 months. On the day of his birth, the infant presented with a pattern of convulsions with dozens ofepisodes per day. An initial video electroencephalogram revealed poor reactivity of background activity, with multiple partial episodesstarting from the right temporal region, and abnormal electrical activity in the right hemisphere. The seizures previouslywere not controlled with successive therapy with phenobarbital, topiramate, and levetiracetam. Genetic testing revealed the presenceof a mutation in the SCN2A gene (c.4425C>G, p.Asn1475Lys). The infant’s seizures decreased significantly with a combinationof KD and medication. The present case exemplifies the potential for personalized genomics in identifying the etiology of anillness. Furthermore, the KD appears to feasible in infants younger than 2 months and might elicit good responses to EOEE associatedwith SCN2A mutation.
Abstract
Research has shown mutations in the voltage-gated sodium channel gene SCN2A to be associated with developmental delaysand infantile seizures in patients with early-onset epileptic encephalopathies (EOEEs). Here, we report the case of an infant witha de novo SCN2A mutation with EOEE who had medically refractory seizures that improved with a ketogenic diet (KD) implementedat an age less than 2 months. On the day of his birth, the infant presented with a pattern of convulsions with dozens ofepisodes per day. An initial video electroencephalogram revealed poor reactivity of background activity, with multiple partial episodesstarting from the right temporal region, and abnormal electrical activity in the right hemisphere. The seizures previouslywere not controlled with successive therapy with phenobarbital, topiramate, and levetiracetam. Genetic testing revealed the presenceof a mutation in the SCN2A gene (c.4425C>G, p.Asn1475Lys). The infant’s seizures decreased significantly with a combinationof KD and medication. The present case exemplifies the potential for personalized genomics in identifying the etiology of anillness. Furthermore, the KD appears to feasible in infants younger than 2 months and might elicit good responses to EOEE associatedwith SCN2A mutation.
참고문헌 (8)
- Su DJ, "SCN2A mutation in an infant presenting with migrating focal seizures and infantile spasm responsive to a ketogenic diet", Brain Dev, 40, pp.724~727 (2018)
- Yu FH, "Overview of the voltage-gated sodium channel family", Genome Biol, 4, pp.207~ (2003)
- Turkdogan D, "Ketogenic diet as a successful early treatment modality for SCN2A mutation", Brain Dev, 41, pp.389~391 (2019)
- van der Louw E, "Ketogenic diet guidelines for infants with refractory epilepsy", Eur J Paediatr Neurol, 20, pp.798~809 (2016)
- Sanders SJ, "De novo mutations revealed by whole-exome sequencing are strongly associated with autism", Nature, 485, pp.237~241 (2012)
- Ko A, "The efficacy of ketogenic diet for specific genetic mutation in developmental and epileptic encephalopathy", Front Neurol, 9, pp.530~ (2018)
- Dressler A, "The ketogenic diet in infants--advantages of early use", Epilepsy Res, 116, pp.53~58 (2015)
- Wong VC, "SCN2A mutation in a Chinese boy with infantile spasm-response to Modified Atkins Diet", Brain Dev, 37, pp.729~732 (2015)