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

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 medical...

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Autores principales: Tian, Xiaoyu, Zhang, Yange, Zhang, Jinhong, Lu, Yan, Men, Xinyi, Wang, Xiuxia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Yonsei University College of Medicine 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8007422/
https://www.ncbi.nlm.nih.gov/pubmed/33779092
http://dx.doi.org/10.3349/ymj.2021.62.4.370
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author Tian, Xiaoyu
Zhang, Yange
Zhang, Jinhong
Lu, Yan
Men, Xinyi
Wang, Xiuxia
author_facet Tian, Xiaoyu
Zhang, Yange
Zhang, Jinhong
Lu, Yan
Men, Xinyi
Wang, Xiuxia
author_sort Tian, Xiaoyu
collection PubMed
description 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 of his birth, the infant presented with a pattern of convulsions with dozens of episodes per day. An initial video electroencephalogram revealed poor reactivity of background activity, with multiple partial episodes starting from the right temporal region, and abnormal electrical activity in the right hemisphere. The seizures previously were not controlled with successive therapy with phenobarbital, topiramate, and levetiracetam. Genetic testing revealed the presence of a mutation in the SCN2A gene (c.4425C>G, p.Asn1475Lys). The infant's seizures decreased significantly with a combination of KD and medication. The present case exemplifies the potential for personalized genomics in identifying the etiology of an illness. Furthermore, the KD appears to feasible in infants younger than 2 months and might elicit good responses to EOEE associated with SCN2A mutation.
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spelling pubmed-80074222021-04-07 Ketogenic Diet in Infants with Early-Onset Epileptic Encephalopathy and SCN2A Mutation Tian, Xiaoyu Zhang, Yange Zhang, Jinhong Lu, Yan Men, Xinyi Wang, Xiuxia Yonsei Med J Case Report 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 of his birth, the infant presented with a pattern of convulsions with dozens of episodes per day. An initial video electroencephalogram revealed poor reactivity of background activity, with multiple partial episodes starting from the right temporal region, and abnormal electrical activity in the right hemisphere. The seizures previously were not controlled with successive therapy with phenobarbital, topiramate, and levetiracetam. Genetic testing revealed the presence of a mutation in the SCN2A gene (c.4425C>G, p.Asn1475Lys). The infant's seizures decreased significantly with a combination of KD and medication. The present case exemplifies the potential for personalized genomics in identifying the etiology of an illness. Furthermore, the KD appears to feasible in infants younger than 2 months and might elicit good responses to EOEE associated with SCN2A mutation. Yonsei University College of Medicine 2021-04-01 2021-03-17 /pmc/articles/PMC8007422/ /pubmed/33779092 http://dx.doi.org/10.3349/ymj.2021.62.4.370 Text en © Copyright: Yonsei University College of Medicine 2021 https://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (https://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Tian, Xiaoyu
Zhang, Yange
Zhang, Jinhong
Lu, Yan
Men, Xinyi
Wang, Xiuxia
Ketogenic Diet in Infants with Early-Onset Epileptic Encephalopathy and SCN2A Mutation
title Ketogenic Diet in Infants with Early-Onset Epileptic Encephalopathy and SCN2A Mutation
title_full Ketogenic Diet in Infants with Early-Onset Epileptic Encephalopathy and SCN2A Mutation
title_fullStr Ketogenic Diet in Infants with Early-Onset Epileptic Encephalopathy and SCN2A Mutation
title_full_unstemmed Ketogenic Diet in Infants with Early-Onset Epileptic Encephalopathy and SCN2A Mutation
title_short Ketogenic Diet in Infants with Early-Onset Epileptic Encephalopathy and SCN2A Mutation
title_sort ketogenic diet in infants with early-onset epileptic encephalopathy and scn2a mutation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8007422/
https://www.ncbi.nlm.nih.gov/pubmed/33779092
http://dx.doi.org/10.3349/ymj.2021.62.4.370
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