A detailed description of the phenotypic spectrum of North Sea Progressive Myoclonus Epilepsy in a large cohort of seventeen patients-Reference-Cited by-同舟云学术

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

Published:2020-03 Issue: Volume:72 Page:44-48
ISSN:1353-8020
Container-title:Parkinsonism & Related Disorders
language:en
Short-container-title:Parkinsonism & Related Disorders

Author:

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

Funder

Netherlands Organisation for Health Research and Development

European Union

Dystonia Medical Research Foundation

Fonds Psychische Gezondheid

Metabolic Power Foundation

Friends of Beatrix Childrens Hospital

Publisher

Elsevier BV

Subject

Neurology (clinical),Geriatrics and Gerontology,Neurology

Reference25 articles.

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2. ‘North Sea’ progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation;Boissé Lomax;Brain,2013

3. A SNARE involved in protein transport through the Golgi apparatus;Lowe;Nature,1997

4. Clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation;van Egmond;Mov. Disord.,2014

5. Deep brain stimulation in three related cases of North Sea progressive myoclonic epilepsy from South Africa;Anderson;Movement Disorders Clinical Practice,2016

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