Solute Carrier Family 2 Member 1 Gene Mutation Presenting as Adult-Onset Paroxysmal Exercise-Induced Dyskinesia Without Epilepsy.
作者信息
Hwang Yun Su, Oh Eungseok
机构信息
Department of Neurology, Jeonbuk National University Medical School and Hospital, Jeonju, Korea.
Research Institute of Clinical Medicine of Jeonbuk National University, Biomedical Research Institute of Jeonbuk National University Hospital, Jeonju, Korea.
出版信息
J Clin Neurol. 2024 Nov;20(6):627-629. doi: 10.3988/jcn.2024.0349.
Abstract
摘要
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本文引用的文献
1
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Nutrients. 2021 Mar 4;13(3):840. doi: 10.3390/nu13030840.
2
Efficacy of Ketogenic Diet, Modified Atkins Diet, and Low Glycemic Index Therapy Diet Among Children With Drug-Resistant Epilepsy: A Randomized Clinical Trial.生酮饮食、改良阿特金斯饮食和低血糖指数治疗饮食在耐药性癫痫儿童中的疗效：一项随机临床试验。
JAMA Pediatr. 2020 Oct 1;174(10):944-951. doi: 10.1001/jamapediatrics.2020.2282.
3
Long-Term Effect of GPi-DBS in a Patient With Generalized Dystonia Due to GLUT1 Deficiency Syndrome.苍白球内侧部脑深部电刺激术对一名因葡萄糖转运蛋白1缺乏综合征导致的全身性肌张力障碍患者的长期疗效。
Front Neurol. 2018 May 30;9:381. doi: 10.3389/fneur.2018.00381. eCollection 2018.
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Dev Med Child Neurol. 2018 Jun;60(6):559-565. doi: 10.1111/dmcn.13744. Epub 2018 Mar 30.
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Sporadic and familial glut1ds Italian patients: A wide clinical variability.散发性和家族性葡萄糖转运蛋白1缺陷症意大利患者：广泛的临床变异性。
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6
Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan.日本葡萄糖转运蛋白1缺乏综合征（GLUT-1DS）的全国性调查。
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Brain. 2010 Mar;133(Pt 3):655-70. doi: 10.1093/brain/awp336. Epub 2010 Feb 2.
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Brain. 2008 Jul;131(Pt 7):1831-44. doi: 10.1093/brain/awn113. Epub 2008 Jun 24.
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