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Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic Encephalopathy.
Mutoh, Hiroki; Kato, Mitsuhiro; Akita, Tenpei; Shibata, Takuma; Wakamoto, Hiroyuki; Ikeda, Hiroko; Kitaura, Hiroki; Aoto, Kazushi; Nakashima, Mitsuko; Wang, Tianying; Ohba, Chihiro; Miyatake, Satoko; Miyake, Noriko; Kakita, Akiyoshi; Miyake, Kensuke; Fukuda, Atsuo; Matsumoto, Naomichi; Saitsu, Hirotomo.
Afiliación
  • Mutoh H; Department of Neurophysiology, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan.
  • Kato M; Department of Pediatrics, Showa University School of Medicine, Tokyo 142-8666, Japan.
  • Akita T; Department of Neurophysiology, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan.
  • Shibata T; Division of Infectious Genetics, Department of Microbiology and Immunology, University of Tokyo, Tokyo 108-8639, Japan.
  • Wakamoto H; Department of Pediatrics, Ehime Rehabilitation Center for Children, Ehime 791-0212, Japan.
  • Ikeda H; Department of Pediatrics, National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders, National Hospital Organization, Shizuoka 420-8688, Japan.
  • Kitaura H; Department of Pathology, Brain Research Institute, University of Niigata, Niigata 951-8585, Japan.
  • Aoto K; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan.
  • Nakashima M; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan.
  • Wang T; Department of Neurophysiology, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan.
  • Ohba C; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Kakita A; Department of Pathology, Brain Research Institute, University of Niigata, Niigata 951-8585, Japan.
  • Miyake K; Division of Infectious Genetics, Department of Microbiology and Immunology, University of Tokyo, Tokyo 108-8639, Japan.
  • Fukuda A; Department of Neurophysiology, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan.
  • Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan. Electronic address: naomat@yokohama-cu.ac.jp.
  • Saitsu H; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan. Electronic address: hsaitsu@hama-med.ac.jp.
Am J Hum Genet ; 102(2): 321-329, 2018 02 01.
Article en En | MEDLINE | ID: mdl-29394991
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Convulsiones / Espasmos Infantiles / Chaperonas Moleculares / Mutación Tipo de estudio: Prognostic_studies Límite: Adolescent / Animals / Child / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Año: 2018 Tipo del documento: Article País de afiliación: Japón
Texto completo
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PubMed Links
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Convulsiones / Espasmos Infantiles / Chaperonas Moleculares / Mutación Tipo de estudio: Prognostic_studies Límite: Adolescent / Animals / Child / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Año: 2018 Tipo del documento: Article País de afiliación: Japón