Zonisamide-responsive myoclonus in SEMA6B-associated progressive myoclonic epilepsy

Rebecca Herzog, Yorck Hellenbroich, Norbert Brüggemann, Katja Lohmann, Mona Grimmel, Tobias B. Haack, Sarah von Spiczak, Alexander Münchau*

*Corresponding author for this work


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.

Original languageEnglish
JournalAnnals of Clinical and Translational Neurology
Issue number7
Pages (from-to)1524-1527
Number of pages4
Publication statusPublished - 07.2021


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