| 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 |
Date: | 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. |
URI: | https://ahro.austin.org.au/austinjspui/handle/1/32159 |
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
Seizures/genetics |
| Appears in Collections: | Journal articles
|
