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DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6A.
Terasaki, Akane; Nakamura, Masayuki; Urata, Yuka; Hiwatashi, Hanae; Yokoyama, Izumi; Yasuda, Takeshi; Onuma, Teiichi; Wada, Kazumaru; Kaneko, Sunao; Kan, Rumiko; Niwa, Shin-Ichi; Hashimoto, Ohiko; Komure, Osamu; Goto, Yu-Ichi; Yamagishi, Yuko; Nakano, Misa; Furusawa, Yoshihiko; Sano, Akira.
Afiliación
  • Terasaki A; Department of Psychiatry, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
  • Nakamura M; Department of Psychiatry, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan. nakamu36@m.kufm.kagoshima-u.ac.jp.
  • Urata Y; Department of Psychiatry, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
  • Hiwatashi H; Department of Psychiatry, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
  • Yokoyama I; Department of Psychiatry, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
  • Yasuda T; Department of Neurology, Kurashiki-kinen Hospital, Kurashiki, Japan.
  • Onuma T; Musashinokokubunji Clinic, Tokyo, Japan.
  • Wada K; Department of Comprehensive Rehabilitation Science, Hirosaki University Graduate School of Health Sciences, Hirosaki, Japan.
  • Kaneko S; North Tohoku Epilepsy Center, Minato Hospital, Aomori, Japan.
  • Kan R; Department of Neuropsychiatry, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
  • Niwa SI; Department of Neuropsychiatry, Fukushima Medical University School of Medicine, Fukushima, Japan.
  • Hashimoto O; Department of Psychiatry, Aizu Medical Center, Fukushima Medical University, Fukushima, Japan.
  • Komure O; Hashimoto Clinic, Tokyo, Japan.
  • Goto YI; Department of Neurology, Amagasaki Daimotsu Hospital, Amagasaki, Japan.
  • Yamagishi Y; Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Nakano M; Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Furusawa Y; Department of Neurology, Kindai University Faculty of Medicine, Osaka, Japan.
  • Sano A; Department of Neurology, Suita Municipal Hospital, Osaka, Japan.
J Hum Genet ; 66(4): 419-429, 2021 Apr.
Article en En | MEDLINE | ID: mdl-33040085
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Autoantígenos / Proteínas de Unión al ARN / Epilepsias Mioclónicas / Repeticiones de Microsatélite / Proteínas del Tejido Nervioso Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Child / Female / Humans / Male / Middle aged Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Japón
Texto completo
Imprimir
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PubMed Links
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Autoantígenos / Proteínas de Unión al ARN / Epilepsias Mioclónicas / Repeticiones de Microsatélite / Proteínas del Tejido Nervioso Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Child / Female / Humans / Male / Middle aged Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Japón