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Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies.
Krüger, Johanna; Schubert, Julian; Kegele, Josua; Labalme, Audrey; Mao, Miaomiao; Heighway, Jacqueline; Seebohm, Guiscard; Yan, Pu; Koko, Mahmoud; Aslan-Kara, Kezban; Caglayan, Hande; Steinhoff, Bernhard J; Weber, Yvonne G; Keo-Kosal, Pascale; Berkovic, Samuel F; Hildebrand, Michael S; Petrou, Steven; Krause, Roland; May, Patrick; Lesca, Gaetan; Maljevic, Snezana; Lerche, Holger.
Afiliación
  • Krüger J; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Otfried-Müller-Straße 27, 72076 Tübingen, Germany.
  • Schubert J; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Otfried-Müller-Straße 27, 72076 Tübingen, Germany.
  • Kegele J; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Otfried-Müller-Straße 27, 72076 Tübingen, Germany.
  • Labalme A; Service de Génétique, Hospices Civils de Lyon, Groupement Hospitalier Est, 59 Boulevard Pine, 69677 Bron, France.
  • Mao M; Florey Institute of Neuroscience and Mental Health, University of Melbourne, 30 Royal Parade, Parkville 3052, VIC, Australia.
  • Heighway J; Florey Institute of Neuroscience and Mental Health, University of Melbourne, 30 Royal Parade, Parkville 3052, VIC, Australia.
  • Seebohm G; Institute for Genetics of Heart Diseases (IfGH), Department of Cardiovascular Medicine, University Hospital Münster, Domagkstraße 3, 48149 Münster, Germany.
  • Yan P; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Otfried-Müller-Straße 27, 72076 Tübingen, Germany.
  • Koko M; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Otfried-Müller-Straße 27, 72076 Tübingen, Germany.
  • Aslan-Kara K; Çukurova University, Faculty of Medicine, Department of Neurology, Balcali 01790, Saricam/Adana, Turkey.
  • Caglayan H; Department of Molecular Biology and Genetics, Bogaziçi University, Bebek 34342, Istanbul, Turkey.
  • Steinhoff BJ; Kork Epilepsy Center, Landstraße 1, 77694 Kehl-Kork, Germany.
  • Weber YG; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Otfried-Müller-Straße 27, 72076 Tübingen, Germany; Department of Epileptology and Neurology, University of Aachen, Pauwelsstraße 30, 52074 Aachen, Germany.
  • Keo-Kosal P; Epileptology, Sleep Disorders and Functional Pediatric Neurology, Member of ERN-EpiCARE; HFME, Hospices Civils de Lyon, 59 Boulevard Pinel, 69500 Bron, France.
  • Berkovic SF; Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, 245 Burgundy Street, Heidelberg 3084,VIC, Australia.
  • Hildebrand MS; Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, 245 Burgundy Street, Heidelberg 3084,VIC, Australia.
  • Petrou S; Florey Institute of Neuroscience and Mental Health, University of Melbourne, 30 Royal Parade, Parkville 3052, VIC, Australia.
  • Krause R; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, 6 Avenue du Swing, Belvaux 4367, Luxembourg.
  • May P; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, 6 Avenue du Swing, Belvaux 4367, Luxembourg.
  • Lesca G; Service de Génétique, Hospices Civils de Lyon, Groupement Hospitalier Est, 59 Boulevard Pine, 69677 Bron, France.
  • Maljevic S; Florey Institute of Neuroscience and Mental Health, University of Melbourne, 30 Royal Parade, Parkville 3052, VIC, Australia.
  • Lerche H; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Otfried-Müller-Straße 27, 72076 Tübingen, Germany. Electronic address: holger.lerche@uni-tuebingen.de.
EBioMedicine ; 84: 104244, 2022 Oct.
Article en En | MEDLINE | ID: mdl-36088682
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Epilepsia Generalizada / Epilepsia / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Animals / Humans Idioma: En Revista: EBioMedicine Año: 2022 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Países Bajos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Epilepsia Generalizada / Epilepsia / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Animals / Humans Idioma: En Revista: EBioMedicine Año: 2022 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Países Bajos