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

Xiuxia Wang; Xiaoyu Tian; Yange Zhang; Jinhong Zhang; Yan Lu; Xinyi Men

추천

검색

자료유형: 학술저널

저자정보: Xiuxia Wang (The Second Hospital of Hebei Medical University China) Xiaoyu Tian (The Second Hospital of Hebei Medical University China) Yange Zhang (The Second Hospital of Hebei Medical University China) Jinhong Zhang (The Second Hospital of Hebei Medical University China) Yan Lu (The Second Hospital of Hebei Medical University China) Xinyi Men (The Second Hospital of Hebei Medical University China)

저널정보: 연세대학교 의과대학 Yonsei Medical Journal Yonsei Medical Journal 제62권 제4호

발행연도: 2021.1

수록면: 370 - 373 (4page)

이용수

📌

연구주제

📖

연구배경

🔬

연구방법

🏆

연구결과

초록· 키워드

오류제보하기

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.

#Early-onset epileptic encephalopathy #SCN2A mutation #ketogenic diet #infant #de novo mutation

참고문헌 (8)

참고문헌 신청

Su DJ / 2018 / SCN2A mutation in an infant presenting with migrating focal seizures and infantile spasm responsive to a ketogenic diet / Brain Dev 40:724~727

Yu FH / 2003 / Overview of the voltage-gated sodium channel family / Genome Biol 4:207

Turkdogan D / 2019 / Ketogenic diet as a successful early treatment modality for SCN2A mutation / Brain Dev 41:389~391

van der Louw E / 2016 / Ketogenic diet guidelines for infants with refractory epilepsy / Eur J Paediatr Neurol 20:798~809

Sanders SJ / 2012 / De novo mutations revealed by whole-exome sequencing are strongly associated with autism / Nature 485:237~241

함께 읽어보면 좋을 논문

논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!