云南高校图书馆联盟文献共享服务平台- EPILEPSY

EPILEPSY: 作品数：786被引量：1111H指数：13; 导出分析报告; 相关作者：熊志奇岳旺王蕾张芳陈迁更多>>; 相关机构：首都医科大学复旦大学中国科学院上海生命科学研究院青岛大学更多>>; 相关期刊：更多>>; 相关基金：国家自然科学基金国家重点基础研究发展计划中国博士后科学基金北京市自然科学基金更多>>

Temporal lobe malacia as a rare cause of gelastic seizure:A case report: 《World Journal of Clinical Cases》2024年第20期4440-4445,共6页Yuan-Sheng Liao Li-Li Gao Min Lin Cheng-Han Wu; the Natural Science Foundation of the Fujian Province,No.2021J01876.; BACKGROUND Gelastic seizure(GS)is a rare type of epilepsy that most commonly appears in patients with hypothalamic hamartoma.It is rarely associated with other types of brain damage.This particular type of epilepsy is...; 关键词：EPILEPSY Gelastic seizure Malacia Temporal lobe Cerebral ischemia Case report

Laryngospasm as an uncommon presentation in a patient with anti-N-methyl-D-aspartate receptor encephalitis:A case report: 《World Journal of Clinical Cases》2023年第20期4961-4965,共5页Lu Wang Hong-Jun Su Guan-Jie Song; BACKGROUND Anti-N-methyl-D-aspartate receptor(anti-NMDAR)encephalitis is a rare autoimmune disorder.The symptoms of anti-NMDAR encephalitis include behavioral problems,speech problems,psychosis,seizures,and memory def...; 关键词：Anti-N-methyl-D-aspartate receptor LARYNGOSPASM ENCEPHALITIS EPILEPSY Immunotherapy Case report

Rare adult neuronal ceroid lipofuscinosis associated with CLN6 gene mutations:A case report: 《World Journal of Clinical Cases》2023年第15期3533-3541,共9页Xue-Qiang Wang Chuan-Bi Chen Wen-Jie Zhao Guang-Bin Fu Yu Zhai; BACKGROUND Adult neuronal ceroid lipofuscinosis(ANCL)can be caused by compound heterozygous recessive mutations in CLN6.The main clinical features of the disease are neurodegeneration,progressive motor dysfunction,sei...; 关键词：CLN6 Neuronal ceroid lipofuscinosis Genetic testing EPILEPSY ATAXIA Case report

Identification of 1q21.1 microduplication in a family:A case report被引量：1: 《World Journal of Clinical Cases》2023年第4期874-882,共9页Ting-Ting Huang Hai-Feng Xu Shang-Yu Wang Wen-Xin Lin Yie-Hen Tung Kaleem Ullah Khan Hui-HuiZhang Hu Guo Guo Zheng Gang Zhang; BACKGROUND Copy number variation(CNV)has become widely recognized in recent years due to the extensive use of gene screening in developmental disorders and epilepsy research.1q21.1 microduplication syndrome is a rare ...; 关键词：1q21.1 microduplication syndrome EPILEPSY Copy number variation FAMILIAL Whole exon sequencing Congenital developmental disorders Case report

Child with adenylosuccinate lyase deficiency caused by a novel complex heterozygous mutation in the ADSL gene:A case report: 《World Journal of Clinical Cases》2022年第30期11082-11089,共8页Xing-Chen Wang Ting Wang Rui-Han Liu Yan Jiang Dan-Dan Chen Xin-Yu Wang Qing-Xia Kong; Supported by the Natural Science Foundation of Shandong Province,No.ZR2019MH060。; BACKGROUND Adenylosuccinate lyase(ADSL)deficiency is a rare autosomal-recessive defect of purine metabolism caused by mutation of the ADSL gene.It can cause severe neurological impairment and diverse clinical manifest...; 关键词：Adenylosuccinate lyase deficiency Compound heterozygous mutations EPILEPSY Pathogenic mutation Case report

VARS2 gene mutation leading to overall developmental delay in a child with epilepsy: A case report: 《World Journal of Clinical Cases》2022年第24期8749-8754,共6页Xiao-Hui Wu Shuang-Zhu Lin Yan-Qiu Zhou Wan-Qi Wang Jia-Yi Li Qian-Dui Chen; BACKGROUND The mitochondrial respiratory chain defects have become the most common cause of neurometabolic disorders in children and adults,which can occur at any time in life,often associated with neurological dysfun...; 关键词：Mitochondrial aminoacyl-tRNA synthetase Mitochondrial diseases VARS2 Case report

Convulsive-like movements as the first symptom of basilar artery occlusive brainstem infarction:A case report被引量：2: 《World Journal of Clinical Cases》2022年第14期4569-4573,共5页Ting-Ling Wang Gang Wu Su-Zhi Liu; Supported by National Natural Science Foundations of China,No.81903584.; BACKGROUND Convulsive-like movements are rare in basilar artery occlusive cerebral infarction(BAOCI).These manifestations may easily be mistaken for epileptic seizures caused by compromised anterior circulation or by ...; 关键词：Convulsive-like movements Basilar artery occlusion Brainstem infarction STROKE EPILEPSY Case report

Enigmatic rapid organization of subdural hematoma in a patient with epilepsy:A case report: 《World Journal of Clinical Cases》2022年第13期4288-4293,共6页Hong-Tao Lv Lin-Yun Zhang Xiao-Tong Wang; BACKGROUND Determining a subdural hematoma(SDH)to be chronic by definition takes 3 wk,whereas organized chronic SDH(OCSDH)is an unusual condition that is believed to form over a much longer period of time,which genera...; 关键词：Organized chronic subdural hematoma Acute subdural hematoma Subacute subdural hematoma CRANIOTOMY ENCAPSULATION Case report

Congenital muscular dystrophy caused by beta1,3-Nacetylgalactosaminyltransferase 2 gene mutation:Two case reports被引量：1: 《World Journal of Clinical Cases》2022年第3期1056-1066,共11页Wen-Juan Wu Su-Zhen Sun Bao-Guang Li; BACKGROUND Mutations in the beta1,3-N-acetylgalactosaminyltransferase 2(B3GALNT2)gene can lead to impaired glycosylation ofα-dystroglycan,which,in turn,causes congenital muscular dystrophy(CMD).The clinical phenotype...; 关键词：Beta1 3-N-acetylgalactosaminyltransferase 2 gene Congenital muscular dystrophy EPILEPSY Language development retardation AUTISM Case report

Novel compound heterozygous GPR56 gene mutation in a twin with lissencephaly:A case report被引量：2: 《World Journal of Clinical Cases》2022年第2期607-617,共11页Wen-Xin Lin Ying-Ying Chai Ting-Ting Huang Xia Zhang Guo Zheng Gang Zhang Fang Peng Yan-Jun Huang; Supported by the Six Talent Peaks Project in Jiangsu Province,No.2016-YY-055.; BACKGROUND Lissencephaly(LIS)is a malformation of cortical development with broad gyri,shallow sulci and thickened cortex characterized by developmental delays and seizures.Currently,20 genes have been implicated in L...; 关键词：LISSENCEPHALY EPILEPSY GPR56 mutations Compound heterozygous mutations Case report

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