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浏览/检索结果: 共6条，第1-6条 帮助 已选(0)清除 条数/页：5101520253035404550556065707580859095100   排序方式：请选择作者升序作者降序题名升序题名降序发表日期升序发表日期降序提交时间升序提交时间降序 Efficacy of antiepileptic drugs for the treatment of Dravet syndrome with different genotypes 期刊论文 2016, 卷号: 38, 期号: 1, 页码: 40-46 作者:  Shi, Xiu-Yu;  Tomonoh, Yuko;  Wang, Wen-Ze;  Ishii, Atsushi;  Higurashi, Norimichi 收藏  |  浏览/下载：6/0  |  提交时间：2020/01/04 Genetic tests  Dravet syndrome  Antiepileptic drug therapy  Efficacy   KCNQ2 abnormality in BECTS: Benign childhood epilepsy with centrotemporal spikes following benign neonatal seizures resulting from a mutation of KCNQ2 期刊论文 EPILEPSY RESEARCH, 2012, 卷号: 102, 期号: 1-2, 页码: 122-125 作者:  Ishii, Atsushi;  Miyajima, Tasuku;  Kurahashi, Hirokazu;  Wang, Ji-Wen;  Yasumoto, Sawa 收藏  |  浏览/下载：3/0  |  提交时间：2019/12/23 BECTS  BFNC  Channelopathy  Genetics  Rolandic discharge   Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy 期刊论文 EPILEPSY RESEARCH, 2012, 卷号: 102, 期号: 3, 页码: 195-200 作者:  Wang, Ji-Wen;  Shi, Xiu-yu;  Kurahashi, Hirokazu;  Hwang, Su-Kyeong;  Ishii, Atsushi 收藏  |  浏览/下载：7/0  |  提交时间：2019/12/23 Channelopathy  Dravet syndrome  Genetic tests  Molecular diagnosis  Oversight   On the likelihood of SCN1A microdeletions or duplications in Dravet syndrome with missense mutation 期刊论文 BRAIN & DEVELOPMENT, 2012, 卷号: 34, 期号: 8, 页码: 617-619 作者:  Shi, Xiuyu;  Wang, Jiwen;  Kurahashi, Hirokazu;  Ishii, Atsushi;  Higurashi, Norimichi 收藏  |  浏览/下载：2/0  |  提交时间：2019/12/23 Genetic tests  Multiplex ligation-dependent probe amplification  SCN1A  Dravet syndrome   Novel de novo splice-site mutation of SCN1A in a patient with partial epilepsy with febrile seizures plus 期刊论文 BRAIN & DEVELOPMENT, 2009, 卷号: 31, 期号: 2, 页码: 179-182 作者:  Kumakura, Akira;  Ito, Masatoshi;  Hata, Daisuke;  Oh, Norifumi;  Kurahashi, Hirokazu 收藏  |  浏览/下载：9/0  |  提交时间：2019/12/26 Novel SCN1A mutation  GEFS plus spectrum  Partial epilepsy with FS  Splice mutation  Truncating type mutation   Microchromosomal deletions involving SCNIA and adjacent genes in severe myoclonic epilepsy in infancy 期刊论文 EPILEPSIA, 2008, 卷号: 49, 期号: 9, 页码: 1528-1534 作者:  Wang, Ji-wen;  Kurahashi, Hirokazu;  Ishii, Atsushi;  Kojima, Toshio;  Ohfu, Masaharu 收藏  |  浏览/下载：5/0  |  提交时间：2019/12/26 febrile seizures  GEFS  channelopathy  copy number variant  continuous  gene syndrome