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Case report: A novel de novo variant of SCN8A in a child with benign convulsions with mild gastroenteritis

Benign convulsions with mild gastroenteritis (CwG) is characterized by afebrile convulsions accompanied by mild gastroenteritis, and it can be considered after central nervous system infection, hypoglycemia, electrolyte disturbance, and moderate and severe dehydration are excluded. Previous studies...

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Autores principales: Chen, Hui, Li, Xiaoyan, Wu, Huaping, Sun, Xiaolan, Che, Yuanyuan, Zha, Jian, Wang, Ruiyan, Yu, Xiongying, Chen, Yong, Zhong, Jianmin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9523015/
https://www.ncbi.nlm.nih.gov/pubmed/36188413
http://dx.doi.org/10.3389/fneur.2022.995513
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author Chen, Hui
Li, Xiaoyan
Wu, Huaping
Sun, Xiaolan
Che, Yuanyuan
Zha, Jian
Wang, Ruiyan
Yu, Xiongying
Chen, Yong
Zhong, Jianmin
author_facet Chen, Hui
Li, Xiaoyan
Wu, Huaping
Sun, Xiaolan
Che, Yuanyuan
Zha, Jian
Wang, Ruiyan
Yu, Xiongying
Chen, Yong
Zhong, Jianmin
author_sort Chen, Hui
collection PubMed
description Benign convulsions with mild gastroenteritis (CwG) is characterized by afebrile convulsions accompanied by mild gastroenteritis, and it can be considered after central nervous system infection, hypoglycemia, electrolyte disturbance, and moderate and severe dehydration are excluded. Previous studies have suggested that genetics may be involved in CWG. Herein, we reported a novel de novo variant of SCN8A in a child with CwG. This is the first report that SCN8A may be associated with CwG. Our report may provides evidence for the genetic etiology of CwG and expands the phenotypic and genetic spectrum of SCN8A-related disorders, which previously included severe developmental and epileptic encephalopathy (DEE) phenotype, benign epilepsy phenotype, spectrum of intermediate epilepsies, and patients with cognitive and/or behavioral disturbances without epilepsy. Phenotype of CwG has a good prognosis, and it does not require long-term antiepileptic therapy. Overtreatment should be avoided clinically. However, the conclusion needs to be further defined by long-term follow-up and similar clinical reports. In spite of this, our clinical observation provides possible evidence for future studies on the relationship between SCN8A and CwG.
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spelling pubmed-95230152022-10-01 Case report: A novel de novo variant of SCN8A in a child with benign convulsions with mild gastroenteritis Chen, Hui Li, Xiaoyan Wu, Huaping Sun, Xiaolan Che, Yuanyuan Zha, Jian Wang, Ruiyan Yu, Xiongying Chen, Yong Zhong, Jianmin Front Neurol Neurology Benign convulsions with mild gastroenteritis (CwG) is characterized by afebrile convulsions accompanied by mild gastroenteritis, and it can be considered after central nervous system infection, hypoglycemia, electrolyte disturbance, and moderate and severe dehydration are excluded. Previous studies have suggested that genetics may be involved in CWG. Herein, we reported a novel de novo variant of SCN8A in a child with CwG. This is the first report that SCN8A may be associated with CwG. Our report may provides evidence for the genetic etiology of CwG and expands the phenotypic and genetic spectrum of SCN8A-related disorders, which previously included severe developmental and epileptic encephalopathy (DEE) phenotype, benign epilepsy phenotype, spectrum of intermediate epilepsies, and patients with cognitive and/or behavioral disturbances without epilepsy. Phenotype of CwG has a good prognosis, and it does not require long-term antiepileptic therapy. Overtreatment should be avoided clinically. However, the conclusion needs to be further defined by long-term follow-up and similar clinical reports. In spite of this, our clinical observation provides possible evidence for future studies on the relationship between SCN8A and CwG. Frontiers Media S.A. 2022-09-16 /pmc/articles/PMC9523015/ /pubmed/36188413 http://dx.doi.org/10.3389/fneur.2022.995513 Text en Copyright © 2022 Chen, Li, Wu, Sun, Che, Zha, Wang, Yu, Chen and Zhong. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Neurology
Chen, Hui
Li, Xiaoyan
Wu, Huaping
Sun, Xiaolan
Che, Yuanyuan
Zha, Jian
Wang, Ruiyan
Yu, Xiongying
Chen, Yong
Zhong, Jianmin
Case report: A novel de novo variant of SCN8A in a child with benign convulsions with mild gastroenteritis
title Case report: A novel de novo variant of SCN8A in a child with benign convulsions with mild gastroenteritis
title_full Case report: A novel de novo variant of SCN8A in a child with benign convulsions with mild gastroenteritis
title_fullStr Case report: A novel de novo variant of SCN8A in a child with benign convulsions with mild gastroenteritis
title_full_unstemmed Case report: A novel de novo variant of SCN8A in a child with benign convulsions with mild gastroenteritis
title_short Case report: A novel de novo variant of SCN8A in a child with benign convulsions with mild gastroenteritis
title_sort case report: a novel de novo variant of scn8a in a child with benign convulsions with mild gastroenteritis
topic Neurology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9523015/
https://www.ncbi.nlm.nih.gov/pubmed/36188413
http://dx.doi.org/10.3389/fneur.2022.995513
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