MYOCLONUS

作品数:15被引量:18H指数:3
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相关领域:医药卫生更多>>
相关作者:廖红梅胡文静杨赛冯枚更多>>
相关机构:湖南省儿童医院更多>>
相关期刊:《World Journal of Clinical Cases》《Pediatric Investigation》《Journal of Zhejiang University-Science B(Biomedicine & Biotechnology)》《Chinese Medical Journal》更多>>
相关基金:国家自然科学基金更多>>
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Bilateral globus pallidus internus-deep brain stimulation in a 5-year-old boy with SGCE-related myoclonus dystonia syndrome
《Pediatric Investigation》2024年第2期154-156,共3页Xiaojuan Tian Changhong Ding Ming Liu Lifang Dai Zixing Xie Tie Fang 
supported by the China Association Against Epilepsy Scientific Research Project(CU-2022-018).
To the editor:Myoclonus-dystonia syndrome(MDS)(OMIM15990)is a heritable disorder characterized by early onset subcortical myoclonic jerks and/or less prominent dystonia.This leads to disability and is often refractory...
关键词:GLOBUS EDITOR Deep 
A rare complication of measles infection presented with subacute sclerosing panencephalitis: Report of two cases in India
《Asian Pacific Journal of Tropical Medicine》2024年第4期184-187,共4页Razeen Fatima Amir Husain Iram Tabish 
Rationale:Subacute sclerosing panencephalitis(SSPE)is a progressive neurological disorder caused by persistent measles virus infection.SSPE predominantly affects children and adolescents.The symptoms usually develop 6...
关键词:Subacute sclerosing panencephalitis MEASLES MYOCLONUS ELECTROENCEPHALOGRAM Cerebrospinal fluid 
Calcineurin Inhibitor Use and Myoclonus Association. Is There a Clinical Implication?被引量:1
《Open Journal of Anesthesiology》2021年第4期85-98,共14页Ricardo E. Verdiner Ruben Casado Arroyo Mohammad Rauf Chaudhry Narjeet Khurmi Karl Poterack Andy Gorlin Arun Jayaraman Gustavo Rodriguez 
Background: Calcineurin Inhibitors (CNIs) play a pivotal role in anti rejection therapy for transplant patients. Neurotoxicity is a known side effect that usually manifests as encephalopathy but myoclonus has a...
关键词:Calcineurin Inhibitors MYOCLONUS NEUROTOXICITY Perioperative Mortality Renal Failure TACROLIMUS MYCOPHENOLATE Endothelial Health Blood Brain Barrier 
Compound heterozygous mutations in the neuraminidase 1 gene in type 1 sialidosis: A case report and review of literature被引量:4
《World Journal of Clinical Cases》2021年第3期623-631,共9页Lan-Xiao Cao Ying Liu Zhao-Jun Song Bao-Rong Zhang Wen-Ying Long Guo-Hua Zhao 
the Research Foundation of Zhejiang Health,No.2020RC061。
BACKGROUND Type 1 sialidosis,also known as cherry-red spot-myoclonus syndrome,is a rare autosomal recessive lysosomal storage disorder presenting in the second decade of life.The most common symptoms are myoclonus,ata...
关键词:Sialidosis MYOCLONUS ATAXIA Neuraminidase 1 Case report Mucolipidoses 
Myoclonus and Recurrent Cardioinhibitory Vasovagal Syncope after Abdominal Surgery in a Critical Care Setting
《World Journal of Cardiovascular Diseases》2020年第5期274-277,共4页Ana Belén Fernández Elena Martín Ramsés Marrero David Viera 
Letter to the
关键词:VASOVAGAL REFLEX SYNCOPE Cardioinhibitory Response AUTONOMIC Failure ASYSTOLE 
Reversible dysphagia due to gabapentin-induced jaw myoclonus
《Chinese Medical Journal》2019年第12期1485-1486,共2页Chun-Him Hui Jackson Ka-Chun Leung Richard Shek-Kwan Chang Yat-Fung Shea 
An 89-year-old woman was admitted with a 3-day history of dysphagia and lower jaw twitching. She had a history of hypertension, diabetes mellitus, surgically corrected left proximal humeral fracture, and right C5 derm...
关键词:REVERSIBLE DYSPHAGIA JAW MYOCLONUS WOMAN 
Beneficiality of combined levetiracetam, clonazepam for myoclonus in MERRF requires further confirmation被引量:3
《Chinese Medical Journal》2019年第5期622-623,共2页Josef Finsterer 
To the Editor: With interest, we read the article by Su et al[1] about the antiepileptic drug (AED) treatment of 17 patients with genetically confirmed myoclonic epilepsy with ragged-red fibers (MERRF) syndrome. It wa...
关键词:COMBINED LEVETIRACETAM MYOCLONUS MERRF 
Identification of a Novel Homozygous Splice-Site Mutation in SCARB2 that Causes Progressive Myoclonus Epilepsy with or without Renal Failure被引量:1
《Chinese Medical Journal》2018年第13期1575-1583,共9页Jin He Han Lin Jin-Jing Li Hui-Zhen Su Dan-Ni Wang Yu Lin Ning Wang Wan-Jin Chen 
This work was supported by the grants from the National Natural Science Foundation of China (No. U1505222, No, 81322017, No. 81500980, and No. 81571100) and the National Key Clinical Specialty Discipline Construction Program and Key Clinical Specialty Discipline Construction Program of Fujian.
Background: Progressive myoclonus epilepsies (PMEs) conaprise a group of rare genetic disorders characterized by action rnyoclonus, epileptic seizures, and ataxia with progressive neurologic decline. Due to clinica...
关键词:Progressive Myoclonus Epilepsies Progressive Myoclonus Epilepsy with or without Renal Failure SCARB2 Gene Targeted Next-Generation Sequencing 
7例儿童斜视眼阵挛-肌阵挛临床特征及治疗效果分析被引量:1
《中国医师杂志》2017年第5期774-776,共3页杨赛 廖红梅 冯枚 胡文静 
目的分析儿童斜视眼阵挛-肌阵挛综合征(OMS)的诊断、治疗及预后。方法回顾性分析2002年1月至2014年12月本院确诊的斜视眼阵挛-肌阵挛综合征7例患儿临床资料,根据是否与神经母细胞瘤(NB)相关,分为伴发NB(NB+组3例)和不伴发NB(...
关键词:Opsoclonus—myoclonus综合征 诊断 治疗 
Botulinum Toxin A for Treatment of Diaphragmatic Myoclonus被引量:1
《Chinese Medical Journal》2017年第6期753-754,共2页Yi-Jing He Bing Li You-Gui Pan Xiao-Long Zhang Ling-Jing Jin 
To the Editor: Diaphragmatic myoclonus, as a typical unusual focal dyskinesia, is characterized by repetitive involuntary synchronous contractions of the diaphragm and other respiratory muscles. Various clinical pres...
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