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Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures.
Carvill, Gemma L; McMahon, Jacinta M; Schneider, Amy; Zemel, Matthew; Myers, Candace T; Saykally, Julia; Nguyen, John; Robbiano, Angela; Zara, Federico; Specchio, Nicola; Mecarelli, Oriano; Smith, Robert L; Leventer, Richard J; Møller, Rikke S; Nikanorova, Marina; Dimova, Petia; Jordanova, Albena; Petrou, Steven; Helbig, Ingo; Striano, Pasquale; Weckhuysen, Sarah; Berkovic, Samuel F; Scheffer, Ingrid E; Mefford, Heather C.
Afiliação
  • Carvill GL; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
  • McMahon JM; Epilepsy Research Centre, Department of Medicine, University of Melbourne at Austin Health, Heidelberg, VIC 3084, Australia.
  • Schneider A; Epilepsy Research Centre, Department of Medicine, University of Melbourne at Austin Health, Heidelberg, VIC 3084, Australia.
  • Zemel M; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
  • Myers CT; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
  • Saykally J; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
  • Nguyen J; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
  • Robbiano A; Laboratory of Neurogenetics, Department of Neurosciences, Giannina Gaslini Institute, Genova 16148, Italy.
  • Zara F; Laboratory of Neurogenetics, Department of Neurosciences, Giannina Gaslini Institute, Genova 16148, Italy.
  • Specchio N; Division of Neurology, Department of Neuroscience, Bambino Gesù Children's Hospital IRCCS, Rome 00165, Italy.
  • Mecarelli O; Department of Neurology & Psychiatry, Sapienza University of Rome, Rome, Lazio 00185, Italy.
  • Smith RL; Department of Neurology, John Hunter Children's Hospital and University of Newcastle Faculty of Health, Newcastle, NSW 2305, Australia.
  • Leventer RJ; Department of Paediatrics, University of Melbourne and Royal Children's Hospital, Parkville, VIC 3052, Australia; Department of Neurology, Royal Children's Hospital, Parkville, VIC 3052, Australia; Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, VIC 3052, Australia.
  • Møller RS; Danish Epilepsy Centre, 4293 Dianalund, Denmark; Institute for Regional Health Services, University of Southern Denmark, Odense 5230, Denmark.
  • Nikanorova M; Danish Epilepsy Centre, 4293 Dianalund, Denmark.
  • Dimova P; Epilepsy Center, St. Ivan Rilski University Hospital, Sofia 1431, Bulgaria.
  • Jordanova A; Department of Molecular Genetics, Vlaams Instituut voor Biotechnologie, Antwerp 2610, Belgium; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp 2610, Belgium; Department of Medical Chemistry and Biochemistry, Molecular Medicine Center, Medical University-Sofia, Sofia
  • Petrou S; Florey Institute of Neuroscience and Mental Health, Melbourne, VIC 3084, Australia.
  • Helbig I; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel Campus and Christian-Albrechts-University of Kiel, Kiel 24118, Germany.
  • Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova and Giannina Gaslini Institute, Genova 16148, Italy.
  • Weckhuysen S; Department of Molecular Genetics, Vlaams Instituut voor Biotechnologie, Antwerp 2610, Belgium; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp 2610, Belgium; INSERM U 1127, Centre National de la Recherche Scientifique UMR 7225, Université Pierre et Marie Curie (Pari
  • Berkovic SF; Epilepsy Research Centre, Department of Medicine, University of Melbourne at Austin Health, Heidelberg, VIC 3084, Australia.
  • Scheffer IE; Epilepsy Research Centre, Department of Medicine, University of Melbourne at Austin Health, Heidelberg, VIC 3084, Australia; Department of Paediatrics, University of Melbourne and Royal Children's Hospital, Parkville, VIC 3052, Australia; Florey Institute of Neuroscience and Mental Health, Melbourne
  • Mefford HC; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA. Electronic address: hmefford@uw.edu.
Am J Hum Genet ; 96(5): 808-15, 2015 May 07.
Article em En | MEDLINE | ID: mdl-25865495
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epilepsia Generalizada / Epilepsias Mioclônicas / Proteínas da Membrana Plasmática de Transporte de GABA Limite: Animals / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epilepsia Generalizada / Epilepsias Mioclônicas / Proteínas da Membrana Plasmática de Transporte de GABA Limite: Animals / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos