Genome-wide identification of febrile seizure and related epilepsy phenotype loci
スポンサーリンク
概要
- 論文の詳細を見る
Febrile seizure (FS), autosomal dominant epilepsy with FS plus (ADEFS+), and severe myoclonic epilepsy of infancy (SMEI) are all triggered by high fever at the onset of disorder, but are clinically distinct from each other. Although various identified gene mutations account for approximately 15% of families with ADEFS+ and 80% of patients with SMEI, the responsible gene for FS is essentially unknown. The present study was conducted to identify the loci associated with the risk of these 3 disorders. Among 154 patients (77 with SMEI, 34 with ADEFS+ and 43 with FS), we found 21, 24 and 27 novel susceptibility loci associated with the three diseases, respectively. This is the first phase of a two-part study on the genetic risk profile for fever-related seizure disorders.
- 日本てんかん学会の論文
著者
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Hirose Shinichi
Department of Pediatrics, Faculty of Medicine, Fukuoka University
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Fujita Hiroshi
Department of Transfusion Medicine, Tokyo Metropolitan Bokutoh Hospital
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Hirose Shinichi
福岡大学 医学部小児科
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KANEKO Sunao
Department of Neuropsychiatry, School of Medicine, Hirosaki University
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KOJIMA Toshio
Comparative Systems Biology Team, Genomic Sciences Center, RIKEN
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Yoshida Shuichi
Department of Neuropsychiatry, Hirosaki University Graduate School of Medicine
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Miyashita Akinori
Genome Science Branch, Center for Bioresource-Based Research, Niigata University Brain Research Inst
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Kuwano Ryozo
Genome Science Branch, Center for Bioresource-Based Research, Niigata University Brain Research Inst
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Sasaki Tomomi
Department of Neuropsychiatry, Hirosaki University Graduate School of Medicine
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Gang Zhu
Department of Neuropsychiatry, Hirosaki University Graduate School of Medicine
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Kanai Kazuaki
Department of Neurology, Graduate School of Medicine, Chiba University
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Kaneko Sunao
Department Of Neuropsychiatry School Of Medicine Hirosaki University
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Kaneko Sunao
Department Of Neuropsychiatry Hirosaki University
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Kojima Toshio
Comparative Systems Biology Team Genomic Sciences Center Riken
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Hirose Shinichi
Department Of Biomolecular Engineering Graduate School Of Bioscience And Biotechnology Tokyo Institu
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Fujita Hiroshi
Department Of Applied Physics Faculty Of Engineering University Of Tokyo
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Kanai Kazuaki
Department Of Neurology Graduate School Of Medicine Chiba University
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Yoshida Shuichi
Department Of Neuropsychiatory Hirosaki University Graduate School Of Medicine
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Miyashita Akinori
Genome Science Branch, Center for Bioresource-Based Research, Niigata University Brain Research Institute
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Kuwano Ryozo
Genome Science Branch, Center for Bioresource-Based Research, Niigata University Brain Research Institute
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Kanai Kazuaki
Department of Applied Chemistry, Faculty of Science and Technology, Keio University
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