Long-term changes in electroencephalogram findings in a girl with a nonsense SMC1A variant: A case report.

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作者： Kazuhiko,Hashimoto ^[1] ; Shimpei,Baba ^[2] ; Eiji,Nakagawa ^[3] ; Noriko,Sumitomo ^[3] ; Eri,Takeshita ^[1] ; Yuko,Shimizu-Motohashi ^[3] ; Akihiko,Ishiyama ^[3] ; Takashi,Saito ^[3] ; Chihiro,Abe-Hatano ^[4] ; Ken,Inoue ^[4] ; Aritoshi,Iida ^[5] ; Masayuki,Sasaki ^[1] ; Yu-Ichi,Goto ^[6]

作者单位： Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo, Japan. ^[1] Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo, Japan; Department of Epileptology, National Center Hospital, NCNP, Kodaira, Tokyo, Japan. Electronic address: sbaba@ncnp.go.jp. ^[2] Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo, Japan; Department of Epileptology, National Center Hospital, NCNP, Kodaira, Tokyo, Japan. ^[3] Department of Mental Retardation and Birth Defect Research, NCNP, Kodaira, Tokyo, Japan. ^[4] Medical Genome Center, NCNP, Kodaira, Tokyo, Japan. ^[5] Department of Mental Retardation and Birth Defect Research, NCNP, Kodaira, Tokyo, Japan; Medical Genome Center, NCNP, Kodaira, Tokyo, Japan. ^[6]

关键词 Electroencephalogram Epilepsy SMC1A Seizure clustering Truncating variant