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Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.
Simons, Cas; Rash, Lachlan D; Crawford, Joanna; Ma, Linlin; Cristofori-Armstrong, Ben; Miller, David; Ru, Kelin; Baillie, Gregory J; Alanay, Yasemin; Jacquinet, Adeline; Debray, François-Guillaume; Verloes, Alain; Shen, Joseph; Yesil, Gözde; Guler, Serhat; Yuksel, Adnan; Cleary, John G; Grimmond, Sean M; McGaughran, Julie; King, Glenn F; Gabbett, Michael T; Taft, Ryan J.
Afiliación
  • Simons C; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.
  • Rash LD; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.
  • Crawford J; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.
  • Ma L; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.
  • Cristofori-Armstrong B; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.
  • Miller D; 1] Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia. [2] Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
  • Ru K; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.
  • Baillie GJ; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.
  • Alanay Y; Pediatric Genetics, Department of Pediatrics, Acibadem University School of Medicine, Istanbul, Turkey.
  • Jacquinet A; Center for Human Genetics, Centre Hospitalier Universitaire and University of Liège, Liège, Belgium.
  • Debray FG; Center for Human Genetics, Centre Hospitalier Universitaire and University of Liège, Liège, Belgium.
  • Verloes A; 1] Department of Genetics, Assistance Publique des Hôpitaux de Paris (AP-HP), Robert Debré Hospital, Paris, France. [2] INSERM UMR 1141, Robert Debré Hospital, Paris, France.
  • Shen J; Medical Genetics and Metabolism, Children's Hospital Central California, Madera, California, USA.
  • Yesil G; Department of Medical Genetics, Bezmialem Vakif University School of Medicine, Istanbul, Turkey.
  • Guler S; Department of Medical Genetics, Bezmialem Vakif University School of Medicine, Istanbul, Turkey.
  • Yuksel A; Department of Medical Genetics, Bezmialem Vakif University School of Medicine, Istanbul, Turkey.
  • Cleary JG; Real Time Genomics, Ltd., Hamilton, New Zealand.
  • Grimmond SM; 1] Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia. [2] Wolfson Wohl Cancer Research Centre, Institute for Cancer Sciences, University of Glasgow, Glasgow, UK.
  • McGaughran J; 1] Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia. [2] School of Medicine, The University of Queensland, Brisbane, Queensland, Australia.
  • King GF; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.
  • Gabbett MT; 1] Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia. [2] School of Medicine, Griffith University, Gold Coast, Queensland, Australia.
  • Taft RJ; 1] Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia. [2] Department of Integrated Systems Biology, School of Medicine and Health Sciences, George Washington University, Washington, DC, USA. [3] Department of Pediatrics, School of Medicine and Health S
Nat Genet ; 47(1): 73-7, 2015 Jan.
Article en En | MEDLINE | ID: mdl-25420144
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Pulgar / Hallux / Mutación Missense / Epilepsia / Canales de Potasio Éter-A-Go-Go / Discapacidad Intelectual / Uñas Malformadas Límite: Animals / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Australia Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Pulgar / Hallux / Mutación Missense / Epilepsia / Canales de Potasio Éter-A-Go-Go / Discapacidad Intelectual / Uñas Malformadas Límite: Animals / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Australia Pais de publicación: Estados Unidos