Austin Health

Title
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage Sensing and Pore Domain of KCNH5.
Publication Date
2022-10-28
Author(s)
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
Type of document
Journal Article
OrcId
0000-0002-8266-266X
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0000-0002-1654-9036
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DOI
10.1212/WNL.0000000000201492
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.
Link
link
Citation
Neurology 2022
Jornal Title
Neurology
ISSN
1526-632X

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