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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 |