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Establishment of isogenic iPSCs from an individual with SCN1A mutation mosaicism as a model for investigating neurocognitive impairment in Dravet syndrome.
Maeda, Hiroshi; Chiyonobu, Tomohiro; Yoshida, Michiko; Yamashita, Satoshi; Zuiki, Masashi; Kidowaki, Satoshi; Isoda, Kenichi; Yamakawa, Kazuhiro; Morimoto, Masafumi; Nakahata, Tatsutoshi; Saito, Megumu K; Hosoi, Hajime.
  • Maeda H; Department of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.
  • Chiyonobu T; Department of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.
  • Yoshida M; Department of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.
  • Yamashita S; Department of Clinical Application, Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan.
  • Zuiki M; Department of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.
  • Kidowaki S; Department of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.
  • Isoda K; Department of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.
  • Yamakawa K; Department of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.
  • Morimoto M; Department of Clinical Application, Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan.
  • Nakahata T; Laboratory for Neurogenetics, RIKEN Brain Science Institute, Saitama, Japan.
  • Saito MK; Department of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.
  • Hosoi H; Department of Clinical Application, Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan.
J Hum Genet ; 61(6): 565-9, 2016 Jun.
Article en En | MEDLINE | ID: mdl-26841829
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Epilepsias Mioclónicas / Células Madre Pluripotentes Inducidas / Estudios de Asociación Genética / Disfunción Cognitiva / Canal de Sodio Activado por Voltaje NAV1.1 / Mosaicismo / Mutación Tipo de estudio: Prognostic_studies Límite: Humans / Male Idioma: En Año: 2016 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Epilepsias Mioclónicas / Células Madre Pluripotentes Inducidas / Estudios de Asociación Genética / Disfunción Cognitiva / Canal de Sodio Activado por Voltaje NAV1.1 / Mosaicismo / Mutación Tipo de estudio: Prognostic_studies Límite: Humans / Male Idioma: En Año: 2016 Tipo del documento: Article