Zonisamide‐responsive myoclonus in SEMA6B‐associated progressive myoclonic epilepsy

Autor:	Rebecca Herzog, Yorck Hellenbroich, Norbert Brüggemann, Katja Lohmann, Mona Grimmel, Tobias B. Haack, Sarah vonSpiczak, Alexander Münchau
Jazyk:	angličtina
Rok vydání:	2021
Předmět:	Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429
Zdroj:	Annals of Clinical and Translational Neurology, Vol 8, Iss 7, Pp 1524-1527 (2021)
Druh dokumentu:	article
ISSN:	2328-9503 79773990
DOI:	10.1002/acn3.51403
Popis:	Abstract 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 progressive myoclonus epilepsy. In many cases, myoclonus in the context of progressive myoclonic epilepsy is refractory to medical treatment. In the present case, treatment with zonisamide caused clinical improvement, particularly of positive and negative truncal myoclonus, considerably improving patient’s gait and thus mobility.
Databáze:	Directory of Open Access Journals
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