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Gain-of-function HCN2 variants in genetic epilepsy.
Li, Melody; Maljevic, Snezana; Phillips, A Marie; Petrovski, Slave; Hildebrand, Michael S; Burgess, Rosemary; Mount, Therese; Zara, Federico; Striano, Pasquale; Schubert, Julian; Thiele, Holger; Nürnberg, Peter; Wong, Michael; Weisenberg, Judith L; Thio, Liu Lin; Lerche, Holger; Scheffer, Ingrid E; Berkovic, Samuel F; Petrou, Steven; Reid, Christopher A.
Afiliación
  • Li M; Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Victoria, Australia.
  • Maljevic S; Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Victoria, Australia.
  • Phillips AM; Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Victoria, Australia.
  • Petrovski S; School of Biosciences, The University of Melbourne, Parkville, Victoria, Australia.
  • Hildebrand MS; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.
  • Burgess R; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.
  • Mount T; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.
  • Zara F; Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Victoria, Australia.
  • Striano P; Laboratory of Neurogenetics, Department of Neuroscience, Institute "G. Gaslini", Genoa, Italy.
  • Schubert J; Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Institute "G. Gaslini", Genoa, Italy.
  • Thiele H; University of Tübingen, Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Tübingen, Germany.
  • Nürnberg P; Cologne Centre for Genomics, University of Cologne, Cologne, Germany.
  • Wong M; Cologne Centre for Genomics, University of Cologne, Cologne, Germany.
  • Weisenberg JL; Department of Neurology, Washington University School of Medicine and St. Louis Children's Hospital, St Louis, Missouri.
  • Thio LL; Department of Neurology, Washington University School of Medicine and St. Louis Children's Hospital, St Louis, Missouri.
  • Lerche H; Department of Neurology, Washington University School of Medicine and St. Louis Children's Hospital, St Louis, Missouri.
  • Scheffer IE; University of Tübingen, Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Tübingen, Germany.
  • Berkovic SF; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.
  • Petrou S; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.
  • Reid CA; Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Victoria, Australia.
Hum Mutat ; 39(2): 202-209, 2018 02.
Article en En | MEDLINE | ID: mdl-29064616
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Epilepsia Generalizada / ADN Complementario / Epilepsia / Canales Regulados por Nucleótidos Cíclicos Activados por Hiperpolarización / Mutación con Ganancia de Función Límite: Female / Humans / Male Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Australia
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Epilepsia Generalizada / ADN Complementario / Epilepsia / Canales Regulados por Nucleótidos Cíclicos Activados por Hiperpolarización / Mutación con Ganancia de Función Límite: Female / Humans / Male Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Australia