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Title: Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains 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 D;Burton, Barbara K;Paras, Andrea;Ellard, Sian;Rankin, Julia;Shukla, Anju;Majethia, Purvi;Olson, Rory J;Muthusamy, Karthik;Schimmenti, Lisa A;Starnes, Keith;Sedláčková, Lucie;Štěrbová, Katalin;Vlčková, Markéta;Laššuthová, Petra;Jahodová, 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: Medicine (University of Melbourne)
Epilepsy Research Centre
Issue Date: 7-Feb-2023 2022
Publication information: Neurology 2023; 100(6)
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.
DOI: 10.1212/WNL.0000000000201492
ORCID: 0000-0002-8266-266X
Journal: Neurology
Start page: e603
End page: e615
PubMed URL: 36307226
ISSN: 1526-632X
Type: Journal Article
Subjects: Epilepsy/genetics
Epilepsy, Generalized/genetics
Appears in Collections:Journal articles

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