North Sea Progressive Myoclonus Epilepsy is Exacerbated by Heat, A Phenotype Primarily Associated with Affected Glia.

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第一作者： Roald A,Lambrechts

第一单位： Department of Biomedical Sciences of Cells and Systems, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands; Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.

作者： Roald A,Lambrechts ^[1] ; Sjoukje S,Polet ^[2] ; Alejandra,Hernandez-Pichardo ^[3] ; Lisa,van Ninhuys ^[3] ; Jenke A,Gorter ^[3] ; Nicola A,Grzeschik ^[3] ; Marina A J,de Koning-Tijssen ^[2] ; Tom J,de Koning ^[4] ; Ody C M,Sibon ^[5]

作者单位： Department of Biomedical Sciences of Cells and Systems, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands; Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands. ^[1] Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands. ^[2] Department of Biomedical Sciences of Cells and Systems, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands. ^[3] Department of Pediatrics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands; Department of Medical Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands. ^[4] Department of Biomedical Sciences of Cells and Systems, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands. Electronic address: o.c.m.sibon@umcg.nl. ^[5]

关键词 GOSR2 childhood onset glia myoclonic epilepsy

主题词青少年(Adolescent);成年人(Adult);动物(Animals);儿童(Child);儿童, 学龄前(Child, Preschool);果蝇属(Drosophila);欧洲(Europe);女(雌)性(Female);热温度(Hot Temperature);人类(Humans);采访(主题)(Interviews as Topic);男(雄)性(Male);模型, 动物(Models, Animal);突变(Mutation);肌阵挛性癫痫, 进行性(Myoclonic Epilepsies, Progressive);神经胶质(Neuroglia);Qb-SNARE蛋白质类(Qb-SNARE Proteins);回顾性研究(Retrospective Studies)

DOI 10.1016/j.neuroscience.2019.10.035

PMID 31682953

发布时间 2020-09-01

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Neuroscience

2019年423卷

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North Sea Progressive Myoclonus Epilepsy is Exacerbated by Heat, A Phenotype Primarily Associated with Affected Glia.

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North Sea Progressive Myoclonus Epilepsy is Exacerbated by Heat, A Phenotype Primarily Associated with Affected Glia.

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