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A novel SEMA6B variant causes adult-onset progressive myoclonic epilepsy-11 in a Chinese family: A case report and literature review

This study describes a patient with progressive myoclonic epilepsy-11 (EPM-11), which follows autosomal dominant inheritance caused by a novel SEMA6B variant. Most patients develop this disease during infancy or adolescence with action myoclonus, generalized tonic-clonic seizures (GTCS), and progres...

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Autores principales: Chen, Yirao, Yang, Xingyan, Yan, Xinxiang, Shen, Lu, Guo, Jifeng, Xu, Qian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9974634/
https://www.ncbi.nlm.nih.gov/pubmed/36873942
http://dx.doi.org/10.3389/fgene.2023.1110310
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author Chen, Yirao
Yang, Xingyan
Yan, Xinxiang
Shen, Lu
Guo, Jifeng
Xu, Qian
author_facet Chen, Yirao
Yang, Xingyan
Yan, Xinxiang
Shen, Lu
Guo, Jifeng
Xu, Qian
author_sort Chen, Yirao
collection PubMed
description This study describes a patient with progressive myoclonic epilepsy-11 (EPM-11), which follows autosomal dominant inheritance caused by a novel SEMA6B variant. Most patients develop this disease during infancy or adolescence with action myoclonus, generalized tonic-clonic seizures (GTCS), and progressive neurological deterioration. No cases of adult-onset EPM-11 have been reported yet. Here, we present one case of adult-onset EPM-11 who experienced gait instability, seizures, and cognitive impairment, and harbored a novel missense variant, c.432C>G (p.C144W). Our findings provide a foundation for a better understanding of the phenotypic and genotypic profiles of EPM-11. Further functional studies are recommended to elucidate the pathogenesis of this disease.
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spelling pubmed-99746342023-03-02 A novel SEMA6B variant causes adult-onset progressive myoclonic epilepsy-11 in a Chinese family: A case report and literature review Chen, Yirao Yang, Xingyan Yan, Xinxiang Shen, Lu Guo, Jifeng Xu, Qian Front Genet Genetics This study describes a patient with progressive myoclonic epilepsy-11 (EPM-11), which follows autosomal dominant inheritance caused by a novel SEMA6B variant. Most patients develop this disease during infancy or adolescence with action myoclonus, generalized tonic-clonic seizures (GTCS), and progressive neurological deterioration. No cases of adult-onset EPM-11 have been reported yet. Here, we present one case of adult-onset EPM-11 who experienced gait instability, seizures, and cognitive impairment, and harbored a novel missense variant, c.432C>G (p.C144W). Our findings provide a foundation for a better understanding of the phenotypic and genotypic profiles of EPM-11. Further functional studies are recommended to elucidate the pathogenesis of this disease. Frontiers Media S.A. 2023-02-15 /pmc/articles/PMC9974634/ /pubmed/36873942 http://dx.doi.org/10.3389/fgene.2023.1110310 Text en Copyright © 2023 Chen, Yang, Yan, Shen, Guo and Xu. 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 Genetics
Chen, Yirao
Yang, Xingyan
Yan, Xinxiang
Shen, Lu
Guo, Jifeng
Xu, Qian
A novel SEMA6B variant causes adult-onset progressive myoclonic epilepsy-11 in a Chinese family: A case report and literature review
title A novel SEMA6B variant causes adult-onset progressive myoclonic epilepsy-11 in a Chinese family: A case report and literature review
title_full A novel SEMA6B variant causes adult-onset progressive myoclonic epilepsy-11 in a Chinese family: A case report and literature review
title_fullStr A novel SEMA6B variant causes adult-onset progressive myoclonic epilepsy-11 in a Chinese family: A case report and literature review
title_full_unstemmed A novel SEMA6B variant causes adult-onset progressive myoclonic epilepsy-11 in a Chinese family: A case report and literature review
title_short A novel SEMA6B variant causes adult-onset progressive myoclonic epilepsy-11 in a Chinese family: A case report and literature review
title_sort novel sema6b variant causes adult-onset progressive myoclonic epilepsy-11 in a chinese family: a case report and literature review
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9974634/
https://www.ncbi.nlm.nih.gov/pubmed/36873942
http://dx.doi.org/10.3389/fgene.2023.1110310
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