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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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
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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. |
format | Online Article Text |
id | pubmed-9974634 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
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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