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De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.
Palmer, E E; Stuhlmann, T; Weinert, S; Haan, E; Van Esch, H; Holvoet, M; Boyle, J; Leffler, M; Raynaud, M; Moraine, C; van Bokhoven, H; Kleefstra, T; Kahrizi, K; Najmabadi, H; Ropers, H-H; Delgado, M R; Sirsi, D; Golla, S; Sommer, A; Pietryga, M P; Chung, W K; Wynn, J; Rohena, L; Bernardo, E; Hamlin, D; Faux, B M; Grange, D K; Manwaring, L; Tolmie, J; Joss, S; Cobben, J M; Duijkers, F A M; Goehringer, J M; Challman, T D; Hennig, F; Fischer, U; Grimme, A; Suckow, V; Musante, L; Nicholl, J; Shaw, M; Lodh, S P; Niu, Z; Rosenfeld, J A; Stankiewicz, P; Jentsch, T J; Gecz, J; Field, M; Kalscheuer, V M.
Afiliação
  • Palmer EE; GOLD (Genetics of Learning and Disability) Service, Hunter Genetics, Waratah, NSW, Australia.
  • Stuhlmann T; School of Women and Children's Health, University of New South Wales, NSW, Australia.
  • Weinert S; Department Physiology and Pathology of Ion Transport, Max-Delbrück-Centrum für Molekulare Medizin, Berlin, Germany.
  • Haan E; Department Physiology and Pathology of Ion Transport, Leibniz-Institut für Molekulare Pharmakologie, Berlin, Germany.
  • Van Esch H; Department Physiology and Pathology of Ion Transport, Max-Delbrück-Centrum für Molekulare Medizin, Berlin, Germany.
  • Holvoet M; Department Physiology and Pathology of Ion Transport, Leibniz-Institut für Molekulare Pharmakologie, Berlin, Germany.
  • Boyle J; School of Medicine, The University of Adelaide, Adelaide, SA, Australia.
  • Leffler M; South Australian Clinical Genetics Service, SA Pathology (at Women's and Children's Hospital), Adelaide, SA, Australia.
  • Raynaud M; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.
  • Moraine C; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.
  • van Bokhoven H; GOLD (Genetics of Learning and Disability) Service, Hunter Genetics, Waratah, NSW, Australia.
  • Kleefstra T; GOLD (Genetics of Learning and Disability) Service, Hunter Genetics, Waratah, NSW, Australia.
  • Kahrizi K; Inserm U930 'Imaging and Brain', Tours, France.
  • Najmabadi H; University François-Rabelais, Tours, France.
  • Ropers HH; Centre Hospitalier Régional Universitaire, Service de Génétique, Tours, France.
  • Delgado MR; Inserm U930 'Imaging and Brain', Tours, France.
  • Sirsi D; University François-Rabelais, Tours, France.
  • Golla S; Centre Hospitalier Régional Universitaire, Service de Génétique, Tours, France.
  • Sommer A; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands.
  • Pietryga MP; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands.
  • Chung WK; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
  • Wynn J; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
  • Rohena L; Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.
  • Bernardo E; Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, TX, USA.
  • Hamlin D; Texas Scottish Rite Hospital for Children, Dallas, TX, USA.
  • Faux BM; Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, TX, USA.
  • Grange DK; Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, TX, USA.
  • Manwaring L; Department of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, OH, USA.
  • Tolmie J; Department of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, OH, USA.
  • Joss S; Columbia University, New York, NY, USA.
  • Cobben JM; Department of Pediatrics, San Antonio Military Medical Center, Fort Sam, Houston, TX, USA.
  • Duijkers FAM; Department of Pediatrics, San Antonio Military Medical Center, Fort Sam, Houston, TX, USA.
  • Goehringer JM; Department of Pediatrics, San Antonio Military Medical Center, Fort Sam, Houston, TX, USA.
  • Challman TD; Department of Pediatrics, San Antonio Military Medical Center, Fort Sam, Houston, TX, USA.
  • Hennig F; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis Children's Hospital, St Louis, MO, USA.
  • Fischer U; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis Children's Hospital, St Louis, MO, USA.
  • Grimme A; West of Scotland Clinical Genetics Service, Southern General Hospital, Glasgow, UK.
  • Suckow V; West of Scotland Clinical Genetics Service, Southern General Hospital, Glasgow, UK.
  • Nicholl J; Department of Pediatrics, AMC University Hospital Amsterdam, Amsterdam, The Netherlands.
  • Shaw M; Department of Clinical Genetics, AMC University Hospital Amsterdam, Amsterdam, The Netherlands.
  • Lodh SP; Autism and Developmental Medicine Institute, Geisinger Health System, Lewisburg, PA, USA.
  • Niu Z; Autism and Developmental Medicine Institute, Geisinger Health System, Lewisburg, PA, USA.
  • Rosenfeld JA; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.
  • Stankiewicz P; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.
  • Jentsch TJ; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.
  • Gecz J; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.
  • Field M; Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.
  • Kalscheuer VM; SA Pathology, Women's and Children's Hospital, North Adelaide, SA, Australia.
Mol Psychiatry ; 23(2): 222-230, 2018 02.
Article em En | MEDLINE | ID: mdl-27550844
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Canais de Cloreto / Síndromes Epilépticas / Deficiência Intelectual Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Animals / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Mol Psychiatry Assunto da revista: BIOLOGIA MOLECULAR / PSIQUIATRIA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Austrália
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Canais de Cloreto / Síndromes Epilépticas / Deficiência Intelectual Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Animals / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Mol Psychiatry Assunto da revista: BIOLOGIA MOLECULAR / PSIQUIATRIA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Austrália