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首页> Brain & development> Single-fiber electromyography-based diagnosis of CACNA1A mutation in children: A potential role of the electrodiagnosis in the era of whole exome sequencing.

Single-fiber electromyography-based diagnosis of CACNA1A mutation in children: A potential role of the electrodiagnosis in the era of whole exome sequencing.

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作者： Ayaka,Hirasawa-Inoue ^[1] ; Akihiko,Ishiyama ^[2] ; Eri,Takeshita ^[1] ; Yuko,Shimizu-Motohashi ^[1] ; Takashi,Saito ^[1] ; Hirofumi,Komaki ^[1] ; Eiji,Nakagawa ^[1] ; Shota,Yuasa ^[3] ; Hirotomo,Saitsu ^[4] ; Kohei,Hamanaka ^[5] ; Satoko,Miyatake ^[5] ; Naomichi,Matsumoto ^[5] ; Masayuki,Sasaki ^[1]

作者单位： Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Japan. ^[1] Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Japan. Electronic address: ishiyama@ncnp.go.jp. ^[2] Department of Pediatrics, Kameda Medical Center, Japan. ^[3] Department of Biochemistry, Hamamatsu University School of Medicine, Japan. ^[4] Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan. ^[5]

关键词 CACNA1A Epileptic encephalopathy Episodic ataxia type 2 Neuromuscular transmission Single-fiber electromyography (SFEMG)

主题词共济失调(Ataxia);钙通道(Calcium Channels);儿童(Child);儿童, 学龄前(Child, Preschool);电诊断(Electrodiagnosis);肌电描记术(Electromyography);女(雌)性(Female);基因型(Genotype);人类(Humans);男(雄)性(Male);突变(Mutation);系谱(Pedigree);表型(Phenotype)

DOI 10.1016/j.braindev.2019.06.006

PMID 31288946

发布时间 2022-12-07

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Brain & development

Brain & development

2019年41卷10期

905-909页

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