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Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.
Schubert, Julian; Siekierska, Aleksandra; Langlois, Mélanie; May, Patrick; Huneau, Clément; Becker, Felicitas; Muhle, Hiltrud; Suls, Arvid; Lemke, Johannes R; de Kovel, Carolien G F; Thiele, Holger; Konrad, Kathryn; Kawalia, Amit; Toliat, Mohammad R; Sander, Thomas; Rüschendorf, Franz; Caliebe, Almuth; Nagel, Inga; Kohl, Bernard; Kecskés, Angela; Jacmin, Maxime; Hardies, Katia; Weckhuysen, Sarah; Riesch, Erik; Dorn, Thomas; Brilstra, Eva H; Baulac, Stephanie; Møller, Rikke S; Hjalgrim, Helle; Koeleman, Bobby P C; Jurkat-Rott, Karin; Lehman-Horn, Frank; Roach, Jared C; Glusman, Gustavo; Hood, Leroy; Galas, David J; Martin, Benoit; de Witte, Peter A M; Biskup, Saskia; De Jonghe, Peter; Helbig, Ingo; Balling, Rudi; Nürnberg, Peter; Crawford, Alexander D; Esguerra, Camila V; Weber, Yvonne G; Lerche, Holger.
Afiliación
  • Schubert J; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
  • Siekierska A; Laboratory for Molecular Biodiscovery, Department of Pharmaceutical and Pharmacological Sciences, University of Leuven, Leuven, Belgium.
  • Langlois M; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg.
  • May P; 1] Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg. [2] Institute for Systems Biology, Seattle, Washington, USA.
  • Huneau C; 1] INSERM, U1099, Rennes, France. [2] Université de Rennes 1, Laboratoire Traitement du Signal et de l'Image (LTSI), Rennes, France.
  • Becker F; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
  • Muhle H; Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian Albrechts University, Kiel, Germany.
  • Suls A; 1] Neurogenetics Group, VIB Department of Molecular Genetics, Antwerp, Belgium. [2] Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
  • Lemke JR; 1] Division of Human Genetics, University Children's Hospital Inselspital, Bern, Switzerland. [2] Institute of Human Genetics, University Hospital Leipzig, Leipzig, Germany.
  • de Kovel CG; Section of Complex Genetics, Department of Medical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
  • Thiele H; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.
  • Konrad K; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.
  • Kawalia A; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.
  • Toliat MR; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.
  • Sander T; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.
  • Rüschendorf F; Max Delbrück Centre for Molecular Medicine, Berlin, Germany.
  • Caliebe A; Institute of Human Genetics, Christian Albrechts University and University Hospital Schleswig-Holstein, Kiel, Germany.
  • Nagel I; Institute of Human Genetics, Christian Albrechts University and University Hospital Schleswig-Holstein, Kiel, Germany.
  • Kohl B; Kinderkrankenhaus Wilhelmstift, Rahlstedt, Germany.
  • Kecskés A; Laboratory for Molecular Biodiscovery, Department of Pharmaceutical and Pharmacological Sciences, University of Leuven, Leuven, Belgium.
  • Jacmin M; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg.
  • Hardies K; 1] Neurogenetics Group, VIB Department of Molecular Genetics, Antwerp, Belgium. [2] Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
  • Weckhuysen S; 1] Neurogenetics Group, VIB Department of Molecular Genetics, Antwerp, Belgium. [2] Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
  • Riesch E; 1] Division of Human Genetics, University Children's Hospital Inselspital, Bern, Switzerland. [2] CeGaT, Tübingen, Germany. [3] Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
  • Dorn T; Swiss Epilepsy Centre, Zurich, Switzerland.
  • Brilstra EH; Section of Complex Genetics, Department of Medical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
  • Baulac S; 1] INSERM U1127, Centre National de la Recherche Scientifique (CNRS) UMR 7225, Sorbonne Universités, Université Pierre et Marie Curie (UMPC) Université Paris 06 UMRS 1127, Paris, France. [2] Institut du Cerveau et de la Moelle Epinière (ICM), Paris, France.
  • Møller RS; 1] Danish Epilepsy Centre, Dianalund, Denmark. [2] Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.
  • Hjalgrim H; 1] Danish Epilepsy Centre, Dianalund, Denmark. [2] Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.
  • Koeleman BP; Section of Complex Genetics, Department of Medical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
  • Jurkat-Rott K; Division of Neurophysiology, University of Ulm, Ulm, Germany.
  • Lehman-Horn F; Division of Neurophysiology, University of Ulm, Ulm, Germany.
  • Roach JC; Institute for Systems Biology, Seattle, Washington, USA.
  • Glusman G; Institute for Systems Biology, Seattle, Washington, USA.
  • Hood L; Institute for Systems Biology, Seattle, Washington, USA.
  • Galas DJ; 1] Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg. [2] Institute for Systems Biology, Seattle, Washington, USA. [3] Pacific Northwest Diabetes Research Institute, Seattle, Washington, USA.
  • Martin B; 1] INSERM, U1099, Rennes, France. [2] Université de Rennes 1, Laboratoire Traitement du Signal et de l'Image (LTSI), Rennes, France.
  • de Witte PA; Laboratory for Molecular Biodiscovery, Department of Pharmaceutical and Pharmacological Sciences, University of Leuven, Leuven, Belgium.
  • Biskup S; 1] CeGaT, Tübingen, Germany. [2] Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
  • De Jonghe P; 1] Neurogenetics Group, VIB Department of Molecular Genetics, Antwerp, Belgium. [2] Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
  • Helbig I; Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian Albrechts University, Kiel, Germany.
  • Balling R; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg.
  • Nürnberg P; 1] Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany. [2] Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany. [3] Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne,
  • Crawford AD; 1] Laboratory for Molecular Biodiscovery, Department of Pharmaceutical and Pharmacological Sciences, University of Leuven, Leuven, Belgium. [2] Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg.
  • Esguerra CV; 1] Laboratory for Molecular Biodiscovery, Department of Pharmaceutical and Pharmacological Sciences, University of Leuven, Leuven, Belgium. [2] Present address: Chemical Neuroscience Group, Biotechnology Centre of Oslo, University of Oslo, Oslo, Norway.
  • Weber YG; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
  • Lerche H; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
Nat Genet ; 46(12): 1327-32, 2014 Dec.
Article en En | MEDLINE | ID: mdl-25362483
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Convulsiones Febriles / Epilepsia / Sintaxina 1 / Mutación Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Animals / Female / Humans / Male Idioma: En Año: 2014 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Convulsiones Febriles / Epilepsia / Sintaxina 1 / Mutación Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Animals / Female / Humans / Male Idioma: En Año: 2014 Tipo del documento: Article