Case Report: Chorea-Acanthocytosis Presents as Epilepsy in a Consanguineous Family With a Nonsense Mutation of in VPS13A.

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第一作者： Fang-Mei,Luo

第一单位： Department of Respiratory Medicine, Diagnosis and Treatment Center of Respiratory Disease, The Second XiangYa Hospital of Central South University, Changsha, China.;Department of Cell Biology, The School of Life Sciences, Central South University, Changsha, China.

作者： Fang-Mei,Luo ^[1] ; Ming-Xing,Deng ^[2] ; Rong,Yu ^[3] ; Lv,Liu ^[4] ; Liang-Liang,Fan ^[5]

作者单位： Department of Respiratory Medicine, Diagnosis and Treatment Center of Respiratory Disease, The Second XiangYa Hospital of Central South University, Changsha, China.;Department of Cell Biology, The School of Life Sciences, Central South University, Changsha, China. ^[1] Department of Dermatology, Loudi Central Hospital, Loudi, China. ^[2] Department of Anesthesiology, The Second Xiangya Hospital, Central South University, Changsha, China. ^[3] Department of Respiratory Medicine, Diagnosis and Treatment Center of Respiratory Disease, The Second XiangYa Hospital of Central South University, Changsha, China. ^[4] Department of Respiratory Medicine, Diagnosis and Treatment Center of Respiratory Disease, The Second XiangYa Hospital of Central South University, Changsha, China.;Department of Cell Biology, The School of Life Sciences, Central South University, Changsha, China.;Hunan Key Laboratory of Animal Models for Human Diseases, Changsha, China. ^[5]

关键词 CHAC VPS13A chorea-acanthocytosis epilepsy homozygous variant

DOI 10.3389/fnins.2021.604715

PMID 33679298

发布时间 2021-05-26

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Frontiers in neuroscience

2021年15卷

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Case Report: Chorea-Acanthocytosis Presents as Epilepsy in a Consanguineous Family With a Nonsense Mutation of in VPS13A.

Frontiers in neuroscience

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Frontiers in neuroscience

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Case Report: Chorea-Acanthocytosis Presents as Epilepsy in a Consanguineous Family With a Nonsense Mutation of in VPS13A.

Frontiers in neuroscience

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Frontiers in neuroscience

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