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 K |
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| 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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| ISSN: | 1528-1167 |
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| DOI: | 10.1111/epi.17455 |
