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...

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Detalles Bibliográficos
Autores principales: Herzog, Rebecca, Hellenbroich, Yorck, Brüggemann, Norbert, Lohmann, Katja, Grimmel, Mona, Haack, Tobias B., von Spiczak, Sarah, Münchau, Alexander
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Case Study
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

Internet

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

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