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Zonisamide‐responsive myoclonus in SEMA6B‐associated progressive myoclonic epilepsy
We present a female patient in her early twenties with global development delay, progressive ataxia, epilepsy, and myoclonus caused by a stop mutation in the SEMA6B gene. Truncating DNA variants located in the last exon of SEMA6B have recently been identified as a cause of autosomal dominant progres...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8283161/ https://www.ncbi.nlm.nih.gov/pubmed/34092044 http://dx.doi.org/10.1002/acn3.51403 |