A detailed description of the phenotypic spectrum of North Sea Progressive Myoclonus Epilepsy in a large cohort of seventeen patients.

Sjoukje S Polet,David G Anderson,Lisette H Koens,Martje E van Egmond,Gea Drost,Esther Brusse,Michèl Aap Willemsen,Deborah A Sival,Oebele F Brouwer,Hubertus Ph Kremer,Jeroen J de Vries,Marina Aj Tijssen,Tom J de Koning

Parkinsonism & Related Disorders（2020）

引用 7|浏览56

暂无评分

摘要

•NSPME is characterized by a typical sequence of early-onset ataxia, myoclonus, and seizures with areflexia and scoliosis.•The severity of symptoms and rate of progression vary considerably among individual patients with NSPME.•Myoclonus and seizures persist despite the use of combination therapy with several anti-epileptic drugs in most patients.

查看译文

关键词

North Sea Progressive Myoclonus Epilepsy,Ataxia,GOSR2,Clinical phenotype,Neurophysiology

AI 理解论文

溯源树

样例

生成溯源树，研究论文发展脉络

Chat Paper

正在生成论文摘要