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Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation.

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Title: Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation.
Authors: Bhat S; Center for Interdisciplinary Research on Brain and Learning (CIRCA), Department of Physics and Department of Pharmacology and Physiology, Université de Montréal, Montréal, QC, Canada., Rousseau J; Centre de Recherche Du Centre Hospitalier Universitaire Sainte-Justine, Université de Montréal, Montréal, QC H3T 1C5, Canada., Michaud C; Centre de Recherche Du Centre Hospitalier Universitaire Sainte-Justine, Université de Montréal, Montréal, QC H3T 1C5, Canada., Lourenço CM; Charles Marques Lourenço, Centro Universitário Estácio de Ribeirão Preto, São Paulo, Brazil., Stoler JM; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Louie RJ; Greenwood Genetic Center, Greenwood, SC 29646, USA., Clarkson LK; Greenwood Genetic Center, Greenwood, SC 29646, USA., Lichty A; Greenwood Genetic Center, Greenwood, SC 29646, USA., Koboldt DC; Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, OH, USA., Reshmi SC; Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, OH, USA; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA., Sisodiya SM; Department of Clinical and Experimental Epilepsy, University College London Queen Square Institute of Neurology, London WC1N 3BG, UK., Hoytema van Konijnenburg EMM; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, the Netherlands., Koop K; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, the Netherlands., van Hasselt PM; Department of Genetics, Section Metabolic Diagnostics, University Medical Center Utrecht, Utrecht, the Netherlands., Démurger F; Service de Génétique, CHBA, 56000 Vannes, France., Dubourg C; Department of Molecular Genetics and Genomics, Rennes University Hospital, Rennes, France; Université de Rennes, CNRS, IGDR, UMR 6290 Rennes, France., Sullivan BR; Division of Clinical Genetics, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO, USA., Hughes SS; Division of Clinical Genetics, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO, USA., Thiffault I; Departments of Pediatrics and of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO, USA., Tremblay ES; Department of Neurology and Neurosurgery, McGill University Health Centre, Montréal, QC, Canada; Department of Pediatrics, Division of Pediatric Neurology, McGill University, Montréal, QC, Canada., Accogli A; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montréal, QC, Canada; Department of Human Genetics, Faculty of Medicine, McGill University, Montral, QC H3A 1B1, Canada., Srour M; Department of Pediatrics, Division of Pediatric Neurology, McGill University, Montréal, QC, Canada; Department of Human Genetics, Faculty of Medicine, McGill University, Montral, QC H3A 1B1, Canada., Blunck R; Center for Interdisciplinary Research on Brain and Learning (CIRCA), Department of Physics and Department of Pharmacology and Physiology, Université de Montréal, Montréal, QC, Canada. Electronic address: rikard.blunck@umontreal.ca., Campeau PM; Department of Pediatrics, Université de Montréal, Montréal, QC, Canada. Electronic address: p.campeau@umontreal.ca.
Source: American journal of human genetics [Am J Hum Genet] 2024 Apr 04; Vol. 111 (4), pp. 761-777. Date of Electronic Publication: 2024 Mar 18.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation.
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  Data: <searchLink fieldCode="AU" term="%22Bhat+S%22">Bhat S</searchLink>; Center for Interdisciplinary Research on Brain and Learning (CIRCA), Department of Physics and Department of Pharmacology and Physiology, Université de Montréal, Montréal, QC, Canada.<br /><searchLink fieldCode="AU" term="%22Rousseau+J%22">Rousseau J</searchLink>; Centre de Recherche Du Centre Hospitalier Universitaire Sainte-Justine, Université de Montréal, Montréal, QC H3T 1C5, Canada.<br /><searchLink fieldCode="AU" term="%22Michaud+C%22">Michaud C</searchLink>; Centre de Recherche Du Centre Hospitalier Universitaire Sainte-Justine, Université de Montréal, Montréal, QC H3T 1C5, Canada.<br /><searchLink fieldCode="AU" term="%22Lourenço+CM%22">Lourenço CM</searchLink>; Charles Marques Lourenço, Centro Universitário Estácio de Ribeirão Preto, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Stoler+JM%22">Stoler JM</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Louie+RJ%22">Louie RJ</searchLink>; Greenwood Genetic Center, Greenwood, SC 29646, USA.<br /><searchLink fieldCode="AU" term="%22Clarkson+LK%22">Clarkson LK</searchLink>; Greenwood Genetic Center, Greenwood, SC 29646, USA.<br /><searchLink fieldCode="AU" term="%22Lichty+A%22">Lichty A</searchLink>; Greenwood Genetic Center, Greenwood, SC 29646, USA.<br /><searchLink fieldCode="AU" term="%22Koboldt+DC%22">Koboldt DC</searchLink>; Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, OH, USA.<br /><searchLink fieldCode="AU" term="%22Reshmi+SC%22">Reshmi SC</searchLink>; Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, OH, USA; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA.<br /><searchLink fieldCode="AU" term="%22Sisodiya+SM%22">Sisodiya SM</searchLink>; Department of Clinical and Experimental Epilepsy, University College London Queen Square Institute of Neurology, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Hoytema+van+Konijnenburg+EMM%22">Hoytema van Konijnenburg EMM</searchLink>; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Koop+K%22">Koop K</searchLink>; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Hasselt+PM%22">van Hasselt PM</searchLink>; Department of Genetics, Section Metabolic Diagnostics, University Medical Center Utrecht, Utrecht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Démurger+F%22">Démurger F</searchLink>; Service de Génétique, CHBA, 56000 Vannes, France.<br /><searchLink fieldCode="AU" term="%22Dubourg+C%22">Dubourg C</searchLink>; Department of Molecular Genetics and Genomics, Rennes University Hospital, Rennes, France; Université de Rennes, CNRS, IGDR, UMR 6290 Rennes, France.<br /><searchLink fieldCode="AU" term="%22Sullivan+BR%22">Sullivan BR</searchLink>; Division of Clinical Genetics, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO, USA.<br /><searchLink fieldCode="AU" term="%22Hughes+SS%22">Hughes SS</searchLink>; Division of Clinical Genetics, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO, USA.<br /><searchLink fieldCode="AU" term="%22Thiffault+I%22">Thiffault I</searchLink>; Departments of Pediatrics and of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO, USA.<br /><searchLink fieldCode="AU" term="%22Tremblay+ES%22">Tremblay ES</searchLink>; Department of Neurology and Neurosurgery, McGill University Health Centre, Montréal, QC, Canada; Department of Pediatrics, Division of Pediatric Neurology, McGill University, Montréal, QC, Canada.<br /><searchLink fieldCode="AU" term="%22Accogli+A%22">Accogli A</searchLink>; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montréal, QC, Canada; Department of Human Genetics, Faculty of Medicine, McGill University, Montral, QC H3A 1B1, Canada.<br /><searchLink fieldCode="AU" term="%22Srour+M%22">Srour M</searchLink>; Department of Pediatrics, Division of Pediatric Neurology, McGill University, Montréal, QC, Canada; Department of Human Genetics, Faculty of Medicine, McGill University, Montral, QC H3A 1B1, Canada.<br /><searchLink fieldCode="AU" term="%22Blunck+R%22">Blunck R</searchLink>; Center for Interdisciplinary Research on Brain and Learning (CIRCA), Department of Physics and Department of Pharmacology and Physiology, Université de Montréal, Montréal, QC, Canada. Electronic address: rikard.blunck@umontreal.ca.<br /><searchLink fieldCode="AU" term="%22Campeau+PM%22">Campeau PM</searchLink>; Department of Pediatrics, Université de Montréal, Montréal, QC, Canada. Electronic address: p.campeau@umontreal.ca.
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  Data: <searchLink fieldCode="JN" term="%220370475%22">American journal of human genetics</searchLink> [Am J Hum Genet] 2024 Apr 04; Vol. 111 (4), pp. 761-777. <i>Date of Electronic Publication: </i>2024 Mar 18.
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