首页> Journal of pediatric genetics> Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in <i>KAT6A</i>.

Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in <i>KAT6A</i>.

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第一作者： Stephanie,Efthymiou

第一单位： Department of Molecular Neuroscience, Institute of Neurology, University College London, London, United Kingdom.;Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, London, United Kingdom.

作者： Stephanie,Efthymiou ^[1] ; Vincenzo,Salpietro ^[2] ; Conceicao,Bettencourt ^[1] ; Henry,Houlden ^[2]

作者单位： Department of Molecular Neuroscience, Institute of Neurology, University College London, London, United Kingdom.;Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, London, United Kingdom. ^[1] Department of Molecular Neuroscience, Institute of Neurology, University College London, London, United Kingdom. ^[2]

关键词 KAT6A global developmental delay startle reflex syndrome

DOI 10.1055/s-0038-1651526

PMID 30105118

发布时间 2020-09-30

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Journal of pediatric genetics

2018年7卷3期

114-116页

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Journal of pediatric genetics

2018年7卷3期

114-116页

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Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in <i>KAT6A</i>.

Journal of pediatric genetics

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Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in <i>KAT6A</i>.

Journal of pediatric genetics

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同项目论文

Journal of pediatric genetics

相关期刊

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