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Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes.
Reinthaler, Eva M; Dejanovic, Borislav; Lal, Dennis; Semtner, Marcus; Merkler, Yvonne; Reinhold, Annika; Pittrich, Dorothea A; Hotzy, Christoph; Feucht, Martha; Steinböck, Hannelore; Gruber-Sedlmayr, Ursula; Ronen, Gabriel M; Neophytou, Birgit; Geldner, Julia; Haberlandt, Edda; Muhle, Hiltrud; Ikram, M Arfan; van Duijn, Cornelia M; Uitterlinden, Andre G; Hofman, Albert; Altmüller, Janine; Kawalia, Amit; Toliat, Mohammad R; Nürnberg, Peter; Lerche, Holger; Nothnagel, Michael; Thiele, Holger; Sander, Thomas; Meier, Jochen C; Schwarz, Günter; Neubauer, Bernd A; Zimprich, Fritz.
Afiliação
  • Reinthaler EM; Department of Neurology, Medical University of Vienna, Vienna, Austria.
  • Dejanovic B; Institute of Biochemistry, Department of Chemistry, University of Cologne, Cologne, Germany.
  • Lal D; Department of Neuropediatrics, University Medical Center Giessen and Marburg, Giessen, Germany.
  • Semtner M; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases, University of Cologne, Cologne, Germany.
  • Merkler Y; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Reinhold A; RNA Editing and Hyperexcitability Disorders Helmholtz Group, Max Delbrück Center for Molecular Medicine, Berlin, Germany.
  • Pittrich DA; Institute of Biochemistry, Department of Chemistry, University of Cologne, Cologne, Germany.
  • Hotzy C; RNA Editing and Hyperexcitability Disorders Helmholtz Group, Max Delbrück Center for Molecular Medicine, Berlin, Germany.
  • Feucht M; Department of Neurology, Medical University of Vienna, Vienna, Austria.
  • Steinböck H; Department of Neurology, Medical University of Vienna, Vienna, Austria.
  • Gruber-Sedlmayr U; Department of Pediatrics, Medical University of Vienna, Vienna, Austria.
  • Ronen GM; Private Practice of Pediatrics, Vienna, Austria.
  • Neophytou B; Department of Pediatrics, Medical University of Graz, Graz, Austria.
  • Geldner J; Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.
  • Haberlandt E; Department of Neuropediatrics, St Anna Children's Hospital, Vienna, Austria.
  • Muhle H; Department of Pediatrics, SMZ Süd - Kaiser-Franz-Josef-Hospital, Vienna, Austria.
  • Ikram MA; Department of Pediatrics, Medical University of Innsbruck, Innsbruck, Austria.
  • van Duijn CM; Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian Albrechts University, Kiel, Germany.
  • Uitterlinden AG; Departments of Epidemiology, Neurology, and Radiology, Erasmus Medical Center, Rotterdam, the Netherlands.
  • Hofman A; Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands.
  • Altmüller J; Department of Internal Medicine, Erasmus Medical Center, Rotterdam, the Netherlands.
  • Kawalia A; Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands.
  • Toliat MR; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Nürnberg P; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Lerche H; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Thiele H; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases, University of Cologne, Cologne, Germany.
  • Sander T; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Meier JC; Department of Neurology and Epileptology, Hertie Institute of Clinical Brain Research, University of Tübingen, Tübingen, Germany.
  • Schwarz G; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Neubauer BA; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Zimprich F; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
Ann Neurol ; 77(6): 972-86, 2015 Jun.
Article em En | MEDLINE | ID: mdl-25726841

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Receptores de GABA-A / Epilepsia Rolândica / Lipoilação / Mutação Limite: Female / Humans / Male Idioma: En Revista: Ann Neurol Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Áustria

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Receptores de GABA-A / Epilepsia Rolândica / Lipoilação / Mutação Limite: Female / Humans / Male Idioma: En Revista: Ann Neurol Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Áustria