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.
| Originalsprache | Englisch |
|---|---|
| Zeitschrift | Annals of Clinical and Translational Neurology |
| Jahrgang | 8 |
| Ausgabenummer | 7 |
| Seiten (von - bis) | 1524-1527 |
| Seitenumfang | 4 |
| DOIs | |
| Publikationsstatus | Veröffentlicht - 07.2021 |
Fördermittel
This study was supported by the Possehl‐Stiftung (Lübeck, Germany), by the Damp‐Stiftung (Kiel, Germany) and was generated within the European Reference Network for Rare Neurological Diseases (ERN‐RND; Project ID No 739510). AM is supported by the Deutsche Forschungsgemeinschaft (DFG; SFB 936 (project C5) and FOR 2698). RH is supported by the section of medicine of the University of Lübeck (CS08‐2020). NB and KL are supported by the Deutsche Forschungsgemeinschaft (DFG, FOR 2488). TBH is supported by the Deutsche Forschungsgemeinschaft (DFG, Project #418081722).
UN SDGs
Dieser Output leistet einen Beitrag zu folgendem(n) Ziel(en) für nachhaltige Entwicklung
