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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Detalles Bibliográficos
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:
Genetics
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

Internet

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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