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Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders.
Burglen, Lydie; Van Hoeymissen, Evelien; Qebibo, Leila; Barth, Magalie; Belnap, Newell; Boschann, Felix; Depienne, Christel; De Clercq, Katrien; Douglas, Andrew G L; Fitzgerald, Mark P; Foulds, Nicola; Garel, Catherine; Helbig, Ingo; Held, Katharina; Horn, Denise; Janssen, Annelies; Kaindl, Angela M; Narayanan, Vinodh; Prager, Christina; Rupin-Mas, Mailys; Afenjar, Alexandra; Zhao, Siyuan; Ramaekers, Vincent Th; Ruggiero, Sarah M; Thomas, Simon; Valence, Stéphanie; Van Maldergem, Lionel; Rohacs, Tibor; Rodriguez, Diana; Dyment, David; Voets, Thomas; Vriens, Joris.
  • Burglen L; Centre de référence des malformations et maladies congénitales du cervelet, Départementde Génétique, APHP, Sorbonne University, Paris, France.
  • Van Hoeymissen E; Developmental Brain Disorders Laboratory, Imagine Institute, Paris, France.
  • Qebibo L; Laboratory of Ion Channel Research, Department of cellular and molecular medicine, University of Leuven, Leuven, Belgium.
  • Barth M; VIB Center for Brain & Disease Research, Leuven, Belgium.
  • Belnap N; Laboratory of Endometrium, Endometriosis & Reproductive Medicine, Department Development & Regeneration, University of Leuven, Leuven, Belgium.
  • Boschann F; Centre de référence des malformations et maladies congénitales du cervelet, Départementde Génétique, APHP, Sorbonne University, Paris, France.
  • Depienne C; Department of Genetics, University Hospital of Angers, Angers, France.
  • De Clercq K; Translational Genomics Research Institute (TGen), Neurogenomics Division, Center for Rare Childhood Disorders, Phoenix, United States.
  • Douglas AGL; Charité - Universitäts medizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institute of Medical Genetics and Human Genetics, Berlin, Germany.
  • Fitzgerald MP; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
  • Foulds N; Laboratory of Ion Channel Research, Department of cellular and molecular medicine, University of Leuven, Leuven, Belgium.
  • Garel C; VIB Center for Brain & Disease Research, Leuven, Belgium.
  • Helbig I; Laboratory of Endometrium, Endometriosis & Reproductive Medicine, Department Development & Regeneration, University of Leuven, Leuven, Belgium.
  • Held K; University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom.
  • Horn D; Children's Hospital of Philadelphia, Philadelphia, United States.
  • Janssen A; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom.
  • Kaindl AM; Centre de référence des malformations et maladies congénitales du cervelet, Départementde Génétique, APHP, Sorbonne University, Paris, France.
  • Narayanan V; Service de Radiologie Pédiatrique, Hôpital Armand-Trousseau, Médecine Sorbonne Université, Paris, France.
  • Prager C; Children's Hospital of Philadelphia, Philadelphia, United States.
  • Rupin-Mas M; Laboratory of Ion Channel Research, Department of cellular and molecular medicine, University of Leuven, Leuven, Belgium.
  • Afenjar A; VIB Center for Brain & Disease Research, Leuven, Belgium.
  • Zhao S; Laboratory of Endometrium, Endometriosis & Reproductive Medicine, Department Development & Regeneration, University of Leuven, Leuven, Belgium.
  • Ramaekers VT; Charité - Universitäts medizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institute of Medical Genetics and Human Genetics, Berlin, Germany.
  • Ruggiero SM; Laboratory of Ion Channel Research, Department of cellular and molecular medicine, University of Leuven, Leuven, Belgium.
  • Thomas S; VIB Center for Brain & Disease Research, Leuven, Belgium.
  • Valence S; Institute of Cell Biology and Neurobiology, Charité - Universitäts medizin Berlin, Berlin, Germany.
  • Van Maldergem L; Department of Pediatric Neurology, Charité - Universitäts medizin Berlin, Berlin, Germany.
  • Rohacs T; Charité - Universitäts medizin Berlin, Center for Chronically Sick Children, Berlin, Germany.
  • Rodriguez D; Translational Genomics Research Institute (TGen), Neurogenomics Division, Center for Rare Childhood Disorders, Phoenix, United States.
  • Dyment D; Department of Pediatric Neurology, Charité - Universitäts medizin Berlin, Berlin, Germany.
  • Voets T; Charité - Universitäts medizin Berlin, Center for Chronically Sick Children, Berlin, Germany.
  • Vriens J; Department of Neuropediatrics, University Hospital of Angers, Angers, France.
Elife ; 122023 01 17.
Article en En | MEDLINE | ID: mdl-36648066
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Epilepsia / Canales Catiónicos TRPM / Trastornos del Neurodesarrollo / Neuroesteroides Tipo de estudio: Prognostic_studies Límite: Animals / Humans Idioma: En Año: 2023 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Epilepsia / Canales Catiónicos TRPM / Trastornos del Neurodesarrollo / Neuroesteroides Tipo de estudio: Prognostic_studies Límite: Animals / Humans Idioma: En Año: 2023 Tipo del documento: Article