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De novo KCNA6 variants with attenuated KV 1.6 channel deactivation in patients with epilepsy.

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Title: De novo KCNA6 variants with attenuated KV 1.6 channel deactivation in patients with epilepsy.
Authors: Salpietro V; Department of Neuromuscular Disease, UCL Institute of Neurology, University College London, London, UK.; Department of Biotechnological and Applied Clinical Sciences (DISCAB), University of L'Aquila, L'Aquila, Italy., Galassi Deforie V; Department of Neuromuscular Disease, UCL Institute of Neurology, University College London, London, UK., Efthymiou S; Department of Neuromuscular Disease, UCL Institute of Neurology, University College London, London, UK., O'Connor E; Department of Neuromuscular Disease, UCL Institute of Neurology, University College London, London, UK., Marcé-Grau A; Department of Paediatric Neurology, University Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain., Maroofian R; Department of Neuromuscular Disease, UCL Institute of Neurology, University College London, London, UK., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, 16124 Genoa, Italy.; Unit of Pediatric Neurology, IRCCS, Istituto 'Giannina Gaslini', Genoa 16123, Italy., Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, 16124 Genoa, Italy.; Medical Genetics Unit, IRCCS, Istituto 'Giannina Gaslini', Genoa 16123, Italy., Morrow MM; GeneDx, Maryland, Gaithersburg, USA., Reich A; GeneDx, Maryland, Gaithersburg, USA., Blevins A; GeneDx, Maryland, Gaithersburg, USA., Sala-Coromina J; Department of Paediatric Neurology, University Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain., Accogli A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, 16124 Genoa, Italy.; Medical Genetics Unit, IRCCS, Istituto 'Giannina Gaslini', Genoa 16123, Italy., Fortuna S; Istituto Italiano di Tecnologia (IIT), Genoa, Italy., Alesandrini M; Neuropediatrics Unit, Centre Hospitalier Universitaire Nantes, Nantes, France., Au PYB; Department of Medical Genetics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Alberta, Calgary, Canada., Singhal NS; Departments of Neurology and Pediatrics, UCSF Benioff Children's Hospital, University of California, California, San Francisco, USA., Cogne B; Centre Hospitalier Universitaire Nantes, Service de Génétique Médicale, Nantes, France.; Université de Nantes, CNRS, INSERM, L'Institut du Thorax, Nantes, France., Isidor B; Centre Hospitalier Universitaire Nantes, Service de Génétique Médicale, Nantes, France.; Université de Nantes, CNRS, INSERM, L'Institut du Thorax, Nantes, France., Hanna MG; Department of Neuromuscular Disease, UCL Institute of Neurology, University College London, London, UK.; Queen Square Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, London, UK., Macaya A; Department of Paediatric Neurology, University Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain., Kullmann DM; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, University College London, London, UK., Houlden H; Department of Neuromuscular Disease, UCL Institute of Neurology, University College London, London, UK., Männikkö R; Department of Neuromuscular Disease, UCL Institute of Neurology, University College London, London, UK.
Corporate Authors: SYNAPS Study Group
Source: Epilepsia [Epilepsia] 2023 Feb; Vol. 64 (2), pp. 443-455. Date of Electronic Publication: 2022 Dec 05.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: De novo KCNA6 variants with attenuated K<subscript>V</subscript> 1.6 channel deactivation in patients with epilepsy.
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  Data: <searchLink fieldCode="AU" term="%22Salpietro+V%22">Salpietro V</searchLink>; Department of Neuromuscular Disease, UCL Institute of Neurology, University College London, London, UK.; Department of Biotechnological and Applied Clinical Sciences (DISCAB), University of L'Aquila, L'Aquila, Italy.<br /><searchLink fieldCode="AU" term="%22Galassi+Deforie+V%22">Galassi Deforie V</searchLink>; Department of Neuromuscular Disease, UCL Institute of Neurology, University College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Efthymiou+S%22">Efthymiou S</searchLink>; Department of Neuromuscular Disease, UCL Institute of Neurology, University College London, London, UK.<br /><searchLink fieldCode="AU" term="%22O'Connor+E%22">O'Connor E</searchLink>; Department of Neuromuscular Disease, UCL Institute of Neurology, University College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Marcé-Grau+A%22">Marcé-Grau A</searchLink>; Department of Paediatric Neurology, University Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Maroofian+R%22">Maroofian R</searchLink>; Department of Neuromuscular Disease, UCL Institute of Neurology, University College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Striano+P%22">Striano P</searchLink>; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, 16124 Genoa, Italy.; Unit of Pediatric Neurology, IRCCS, Istituto 'Giannina Gaslini', Genoa 16123, Italy.<br /><searchLink fieldCode="AU" term="%22Zara+F%22">Zara F</searchLink>; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, 16124 Genoa, Italy.; Medical Genetics Unit, IRCCS, Istituto 'Giannina Gaslini', Genoa 16123, Italy.<br /><searchLink fieldCode="AU" term="%22Morrow+MM%22">Morrow MM</searchLink>; GeneDx, Maryland, Gaithersburg, USA.<br /><searchLink fieldCode="AU" term="%22Reich+A%22">Reich A</searchLink>; GeneDx, Maryland, Gaithersburg, USA.<br /><searchLink fieldCode="AU" term="%22Blevins+A%22">Blevins A</searchLink>; GeneDx, Maryland, Gaithersburg, USA.<br /><searchLink fieldCode="AU" term="%22Sala-Coromina+J%22">Sala-Coromina J</searchLink>; Department of Paediatric Neurology, University Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Accogli+A%22">Accogli A</searchLink>; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, 16124 Genoa, Italy.; Medical Genetics Unit, IRCCS, Istituto 'Giannina Gaslini', Genoa 16123, Italy.<br /><searchLink fieldCode="AU" term="%22Fortuna+S%22">Fortuna S</searchLink>; Istituto Italiano di Tecnologia (IIT), Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Alesandrini+M%22">Alesandrini M</searchLink>; Neuropediatrics Unit, Centre Hospitalier Universitaire Nantes, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Au+PYB%22">Au PYB</searchLink>; Department of Medical Genetics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Alberta, Calgary, Canada.<br /><searchLink fieldCode="AU" term="%22Singhal+NS%22">Singhal NS</searchLink>; Departments of Neurology and Pediatrics, UCSF Benioff Children's Hospital, University of California, California, San Francisco, USA.<br /><searchLink fieldCode="AU" term="%22Cogne+B%22">Cogne B</searchLink>; Centre Hospitalier Universitaire Nantes, Service de Génétique Médicale, Nantes, France.; Université de Nantes, CNRS, INSERM, L'Institut du Thorax, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Isidor+B%22">Isidor B</searchLink>; Centre Hospitalier Universitaire Nantes, Service de Génétique Médicale, Nantes, France.; Université de Nantes, CNRS, INSERM, L'Institut du Thorax, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Hanna+MG%22">Hanna MG</searchLink>; Department of Neuromuscular Disease, UCL Institute of Neurology, University College London, London, UK.; Queen Square Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, London, UK.<br /><searchLink fieldCode="AU" term="%22Macaya+A%22">Macaya A</searchLink>; Department of Paediatric Neurology, University Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Kullmann+DM%22">Kullmann DM</searchLink>; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, University College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Houlden+H%22">Houlden H</searchLink>; Department of Neuromuscular Disease, UCL Institute of Neurology, University College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Männikkö+R%22">Männikkö R</searchLink>; Department of Neuromuscular Disease, UCL Institute of Neurology, University College London, London, UK.
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  Data: <searchLink fieldCode="JN" term="%222983306R%22">Epilepsia</searchLink> [Epilepsia] 2023 Feb; Vol. 64 (2), pp. 443-455. <i>Date of Electronic Publication: </i>2022 Dec 05.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Blackwell+Science%22">Blackwell Science </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>2983306R <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1528-1167 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200139580%22">00139580 </searchLink><i>NLM ISO Abbreviation: </i>Epilepsia <i>Subsets: </i>MEDLINE
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