Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/32159
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

Show full item record

Page view(s)

74
checked on Dec 3, 2024

Google ScholarTM

Check


Items in AHRO are protected by copyright, with all rights reserved, unless otherwise indicated.