Paroxysmal Dyskinesia in Children: from Genes to the Clinic

机译：儿童阵发性运动障碍：从基因到临床

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摘要

Background and PurposeParoxysmal dyskinesia is a genetically and clinically heterogeneous movement disorder. Recent studies have shown that it exhibits both phenotype and genotype overlap with other paroxysmal disorders as well as clinical heterogeneity. We investigated the clinical and genetic characteristics of paroxysmal dyskinesia in children.

机译：背景与目的阵发性运动障碍是遗传和临床上异类的运动障碍。最近的研究表明，它与其他阵发性疾病表现出表型和基因型重叠以及临床异质性。我们调查了儿童阵发性运动障碍的临床和遗传特征。

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期刊名称 Journal of Clinical Neurology (Seoul Korea)
作者
Soo Yeon Kim; Jin Sook Lee; Woo Joong Kim; Hyuna Kim; Sun Ah Choi; Byung Chan Lim; Ki Joong Kim; Jong-Hee Chae;
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作者单位

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年(卷),期 2018(14),4
年度 2018
页码 492–497
总页数 6
原文格式 PDF
正文语种
中图分类神经病学;
关键词
paroxysmal dyskinesia movement disorder paroxysmal kinesigenic dyskinesia paroxysmal nonkinesigenic dyskinesia paroxysmal exercise-induced dyskinesia PRRT2 SLC2A1 MR-1;

机译：阵发性运动障碍;运动障碍;阵发性运动原性运动障碍;阵发性非运动发生性运动障碍;阵发性运动诱发的运动障碍;PRRT2;SLC2A1;MR-1;

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专利

1. Paroxysmal Dyskinesia in Children: from Genes to the Clinic [J] . Kim Soo Yeon, Lee Jin Sook, Kim Woo Joong, Journal of Clinical Neurology . 2018,第4期

机译：儿童阵发性运动障碍：从基因到临床
2. Dystonia and Paroxysmal Dyskinesias: Under-Recognized Movement Disorders in Domestic Animals? A Comparison with Human Dystonia/Paroxysmal Dyskinesias [J] . Richter Angelika, Hamann Melanie, Wissel J?rg, Frontiers in Veterinary Science . 2015,第6期

机译：肌张力障碍和阵发性运动障碍：家畜的运动障碍认识不足？与人肌张力障碍/阵发性运动障碍的比较
3. Paroxysmal kinesigenic dyskinesia sans dyskinesia or paroxysmal kinesigenic dysesthesia? [J] . Hobson DE Movement disorders . 2010,第9期

机译：阵发性运动原性运动障碍无运动障碍或阵发性运动原性运动障碍？
4. Development of a Mobile Application in Augmented Reality to Improve the Communication Field of Autistic Children at a Neurorehabilitar Clinic [C] . Rincon M. Nubia, Garay R. Fabian, Rodriguez A. Wilson, Workshop on Engineering Applications - International Congress on Engineering . 2015

机译：扩大现实中的移动应用程序的发展，以改善神经睡衣诊所的自闭症儿童的通信领域
5. The Evaluation of an Educational Intervention on Food Label Literacy among Parents of Children in an Outpatient Pediatric Clinic [D] . Okocha, Ifunanya. 2021

机译：在门诊小儿诊所儿童父母中对食品标签素养教育干预的评价
6. Genetics of Paroxysmal Dyskinesia: Novel Variants Corroborate the Role of KCNA1 in Paroxysmal Dyskinesia and Highlight the Diverse Phenotypic Spectrum of KCNA1- and SLC2A1-Related Disorders [O] . Josua Kegele, Johanna Krüger, Mahmoud Koko, 2021

机译：阵发性诱导症的遗传学：新型变体证实了KCNA1在阵发性诱导症中的作用并突出了KCNA1和SLC2A1相关疾病的多样化表型谱
7. Paroxysmal Dyskinesia in Children: from Genes to the Clinic [O] . Soo Yeon Kim, Jin Sook Lee, Woo Joong Kim, 2018

机译：儿童阵发性障碍症：从基因到诊所
8. Study to Determine the Impact of the PRIMUS Clinic on Patient Workload in the General Outpatient Clinic, the Emergency Room, the GYN Clinic, the Pediatric Clinic, and the Family Practice Clinic at Martin Army Community Hospital. [R] . Peyton, M. L. 1989

机译：研究确定pRImUs诊所对马丁军社区医院普通门诊诊所，急诊室，GYN诊所，儿科诊所和家庭诊所诊所的患者工作量的影响。

Paroxysmal Dyskinesia in Children: from Genes to the Clinic

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