Paroxysmal Exercise-Induced Dyskinesia in Siblings due to Gene Mutation - First Indian Case Report.
作者信息
Senthilkumar Vajramanickam, Sivaraj Kiruthika
机构信息
Consultant Pediatric Neurologist, Senthil Child Neuro Clinic, Salem, Tamil Nadu, India.
Pediatric Geneticist, Senthil Child Neuro Clinic, Salem, Tamil Nadu, India.
出版信息
Ann Indian Acad Neurol. 2020 Nov-Dec;23(6):837-838. doi: 10.4103/aian.AIAN_89_20. Epub 2020 Jul 8.
Abstract
摘要
相似文献
1
Paroxysmal Exercise-Induced Dyskinesia in Siblings due to Gene Mutation - First Indian Case Report.
Ann Indian Acad Neurol. 2020 Nov-Dec;23(6):837-838. doi: 10.4103/aian.AIAN_89_20. Epub 2020 Jul 8.
2
ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism.ECHS1 突变导致 Leigh 病：一种影响缬氨酸代谢的新的先天性代谢错误。
Brain. 2014 Nov;137(Pt 11):2903-8. doi: 10.1093/brain/awu216. Epub 2014 Aug 14.
3
A case of familial paroxysmal nonkinesigenic dyskinesia due to mutation of the PNKD gene in Chinese Mainland.中国大陆地区因PNKD基因突变导致的家族性阵发性非运动诱发性运动障碍1例。
Brain Res. 2015 Jan 21;1595:120-6. doi: 10.1016/j.brainres.2014.07.047. Epub 2014 Aug 5.
4
Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency.线粒体短链烯酰辅酶A水合酶（ECHS1）缺乏症中变异期的外推法
JIMD Rep. 2019;43:103-109. doi: 10.1007/8904_2018_111. Epub 2018 Jun 20.
5
Clinical characteristics and PRRT2 gene mutation analysis of sporadic patients with paroxysmal kinesigenic dyskinesia in China.中国散发性发作性运动诱发性运动障碍患者的临床特征及PRRT2基因突变分析
Clin Neurol Neurosurg. 2017 Aug;159:25-28. doi: 10.1016/j.clineuro.2017.05.004. Epub 2017 May 8.
6
A Challenging Diagnosis of Atypical Glut1-DS: A Case Report and Literature Review.非典型葡萄糖转运蛋白1缺陷综合征的疑难诊断：一例报告及文献综述
Front Neurol. 2021 Jan 28;11:549331. doi: 10.3389/fneur.2020.549331. eCollection 2020.
7
Paroxysmal Dyskinesias in a Mutation Carrier.突变携带者的阵发性运动障碍
Tremor Other Hyperkinet Mov (N Y). 2018 Dec 3;8:616. doi: 10.7916/D8S488X0. eCollection 2018.
8
Clinical and polygraphic study of familial paroxysmal kinesigenic dyskinesia with PRRT2 mutation.PRRT2 突变家族性阵发性运动源性运动障碍的临床和多导睡眠描记术研究。
Epileptic Disord. 2013 Jun;15(2):123-7. doi: 10.1684/epd.2013.0569.
9
Phenotypic spectrum of short-chain enoyl-Coa hydratase-1 (ECHS1) deficiency.短链烯酰基辅酶 A 水合酶 1（ECHS1）缺乏症的表型谱。
Eur J Paediatr Neurol. 2020 Sep;28:151-158. doi: 10.1016/j.ejpn.2020.07.007. Epub 2020 Jul 29.
10
PRRT2 mutations in a cohort of Chinese families with paroxysmal kinesigenic dyskinesia and genotype-phenotype correlation reanalysis in literatures.中国阵发性运动诱发性运动障碍家系队列中的PRRT2突变及文献中的基因型-表型相关性再分析
Int J Neurosci. 2018 Aug;128(8):751-760. doi: 10.1080/00207454.2017.1418345. Epub 2018 Jan 7.
引用本文的文献
1
Paroxysmal Dyskinesias in Paediatric Age: A Systematic Review.儿童期发作性运动障碍：一项系统综述
J Clin Med. 2025 Aug 22;14(17):5925. doi: 10.3390/jcm14175925.
本文引用的文献
1
Pyruvate dehydrogenase complex-E2 deficiency causes paroxysmal exercise-induced dyskinesia.丙酮酸脱氢酶复合体-E2缺乏症导致阵发性运动诱发性运动障碍。
Neurology. 2017 Nov 28;89(22):2297-2298. doi: 10.1212/WNL.0000000000004689. Epub 2017 Nov 1.
2
ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesias: case presentation and initial benefit of intervention.ECHS1缺乏相关的阵发性运动诱发的运动障碍：病例报告及干预的初步疗效
J Neurol. 2017 Jan;264(1):185-187. doi: 10.1007/s00415-016-8381-z. Epub 2016 Dec 30.
3
Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.ECHS1缺乏症表型范围内的阵发性运动诱发性肌张力障碍。
Mov Disord. 2016 Jul;31(7):1041-8. doi: 10.1002/mds.26610. Epub 2016 Apr 19.
4
Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification.再探发作性运动障碍：500例基因确诊病例综述及新分类法
Mov Disord. 2014 Aug;29(9):1108-16. doi: 10.1002/mds.25933. Epub 2014 Jun 25.
5
Paroxysmal dyskinesias.阵发性运动障碍。
Mov Disord. 2011 May;26(6):1157-65. doi: 10.1002/mds.23765.
Zotero 插件