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https://ahro.austin.org.au/austinjspui/handle/1/31607| Title: | Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage Sensing and Pore Domain of KCNH5. | Austin Authors: | Happ, Hannah C;Sadleir, Lynette G;Zemel, Matthew;de Valles-Ibáñez, Guillem;Hildebrand, Michael S ;McConkie-Rosell, Allyn;McDonald, Marie;May, Halie;Sands, Tristan;Aggarwal, Vimla;Elder, Christopher;Feyma, Timothy;Bayat, Allan;Møller, Rikke S;Fenger, Christina D;Klint Nielsen, Jens Erik;Datta, Anita N;Gorman, Kathleen M;King, Mary D;Linhares, Natalia;Burton, Barbara K;Paras, Andrea;Ellard, Sian;Rankin, Julia;Shukla, Anju;Majethia, Purvi;Olson, Rory J;Muthusamy, Karthik;Schimmenti, Lisa A;Starnes, Keith;Sedlackova, Lucie;Sterbova, Katalin;Vlckova, Marketa;Lassuthova, Petra;Jahodova, Alena;Porter, Brenda E;Couque, Nathalie;Colin, Estelle;Prouteau, Clément;Collet, Corinne;Smol, Thomas;Caumes, Roseline;Vansenne, Fleur;Bisulli, Francesca;Licchetta, Laura;Person, Richard;Torti, Erin;McWalter, Kirsty;Webster, Richard;Gerard, Elizabeth E;Lesca, Gaetan;Szepetowski, Pierre;Scheffer, Ingrid E ;Mefford, Heather C;Carvill, Gemma L | Affiliation: | Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA. University of Otago, Wellington, New Zealand. University of Washington, Seattle, WA, USA. Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA. Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA. Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA. Gillette Children's Specialty Healthcare, St. Paul, MN, USA. Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark. Department of Clinical Medicine, Zealand University Hospital, Roskilde, Denmark. University of British Columbia, Vancouver, Canada. The Department of Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple St., Temple Street, Dublin 1, Ireland. Genuity Science, Dublin, Ireland. Lurie Children's Hospital of Chicago, Chicago, IL, USA. Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK. Dept Clinical Genetics, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK. Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India. Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA. Department of Neurology, Mayo Clinic, Rochester, MN, USA. Neurogenetic Laboratory, Department of Pediatric Neurology, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic. Epilepsy Research Centre Prague - EpiReC consortium. Neurogenetic Laboratory, Department of Pediatric Neurology, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic. Stanford University School of Medicine, Palo Alto, CA, USA. Laboratoire de biologie médicale multisites Seqoia-FMG2025, Laboratoire Génétique Moléculaire Robert-Debré, Paris, France. Service de Génétique, CHU d'Angers, Angers, France. Laboratoire de biologie médicale multisites Seqoia-FMG2025, Laboratoire Génétique Moléculaire Robert-Debré, Paris, France. Univ. Lille, CHU Lille, ULR7364 - RADEME, Clinique de Genetique, F-59000 Lille, France. Univeristy Medical Center Groningen, Groningen, the Netherlands. Department of Biomedical and NeuroMotor Sciences, University of Bologna, Bologna, Italy. IRCCS Istituto delle Scienze Neurologiche di Bologna, Full Member of the ERN EpiCARE Bologna, Italy. GeneDx, Gaithersburg, MD, USA. Epilepsy Research Centre Department of Medical Genetics, University Hospital of Lyon, Claude Bernard Lyon 1 University, Lyon, France. INSERM, Aix-Marseille University, INMED, Marseille, France. Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN, USA. |
Issue Date: | 28-Oct-2022 | Date: | 2022 | Publication information: | Neurology 2022 | Abstract: | KCNH5 encodes the voltage-gated potassium channel EAG2/Kv10.2. We aimed to delineate the neurodevelopmental and epilepsy phenotypic spectrum associated with de novo KCNH5 variants. | URI: | https://ahro.austin.org.au/austinjspui/handle/1/31607 | DOI: | 10.1212/WNL.0000000000201492 | ORCID: | 0000-0002-8266-266X 0000-0002-6242-4306 0000-0001-7285-1195 0000-0003-4986-8006 0000-0002-9664-1448 0000-0002-5488-1507 0000-0001-7879-0450 0000-0003-3154-4249 0000-0001-6346-7327 0000-0002-1109-7296 0000-0002-1654-9036 0000-0002-2311-2174 |
Journal: | Neurology | PubMed URL: | 36307226 | ISSN: | 1526-632X | Type: | Journal Article |
| Appears in Collections: | Journal articles |
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