Longstanding Paroxysmal Dyskinesia in GLUT1 Deficiency Syndrome.
作者信息
Coleman Juliana, Dean Marissa
机构信息
University of Alabama at Birmingham Birmingham Alabama USA.
出版信息
Mov Disord Clin Pract. 2020 Sep 29;7(Suppl 3):S96-S98. doi: 10.1002/mdc3.13071. eCollection 2020 Sep.
Abstract
摘要
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Unravelling of the paroxysmal dyskinesias.阵发性运动障碍的解析。
J Neurol Neurosurg Psychiatry. 2019 Feb;90(2):227-234. doi: 10.1136/jnnp-2018-318932. Epub 2018 Sep 21.
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Clinical Aspects of Glucose Transporter Type 1 Deficiency: Information From a Global Registry.1型葡萄糖转运体缺乏症的临床特征：来自全球登记处的信息
JAMA Neurol. 2017 Jun 1;74(6):727-732. doi: 10.1001/jamaneurol.2017.0298.
3
GLUT1 deficiency syndrome into adulthood: a follow-up study.葡萄糖转运蛋白 1 缺乏综合征延续至成年：一项随访研究。
J Neurol. 2014 Mar;261(3):589-99. doi: 10.1007/s00415-014-7240-z. Epub 2014 Jan 12.
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GLUT1 deficiency syndrome 2013: current state of the art.GLUT1 缺乏综合征 2013：最新进展。
Seizure. 2013 Dec;22(10):803-11. doi: 10.1016/j.seizure.2013.07.003. Epub 2013 Jul 26.
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Glut1 deficiency syndrome and erythrocyte glucose uptake assay.葡萄糖转运蛋白 1 缺乏综合征和红细胞葡萄糖摄取测定。
Ann Neurol. 2011 Dec;70(6):996-1005. doi: 10.1002/ana.22640.
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Milder phenotypes of glucose transporter type 1 deficiency syndrome.葡萄糖转运蛋白 1 缺乏症的温和表型。
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The spectrum of movement disorders in Glut-1 deficiency.谷氨酰胺转运蛋白 1 缺乏症的运动障碍谱。
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Paroxysmal movement disorders in GLUT1 deficiency syndrome.葡萄糖转运蛋白1缺乏综合征中的发作性运动障碍
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Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.阵发性运动诱发性运动障碍和癫痫是由编码葡萄糖转运蛋白GLUT1的SLC2A1基因突变所致。
Brain. 2008 Jul;131(Pt 7):1831-44. doi: 10.1093/brain/awn113. Epub 2008 Jun 24.
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