Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5

Happ, H. C., Sadleir, L. G., Zemel, M., de Valles-Ibáñez, G., Hildebrand, M. S., McConkie-Rosell, A., McDonald, M., May, H., Sands, T., Aggarwal, V., Elder, C., Feyma, T., Bayat, A., Møller, R. S., Fenger, C. D., Klint Nielsen, J. E., Datta, A. N., Gorman, K. M., King, M. D., … Carvill, G. L. (2023). Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5. Neurology, 100(6). https://doi.org/10.1212/wnl.0000000000201492

Authors:

Hannah C Happ

Lynette G Sadleir

Matthew Zemel

Guillem de Valles-Ibáñez

Michael S Hildebrand

Allyn McConkie-Rosell

Marie McDonald

Halie May

Tristan Sands

Vimla Aggarwal

Christopher Elder

Timothy Feyma

Allan Bayat

Rikke S Møller

Christina D Fenger

Jens Erik Klint Nielsen

Anita N Datta

Kathleen M Gorman

Mary D King

Natalia D Linhares

Barbara K Burton

Andrea Paras

Sian Ellard

Julia Rankin

Anju Shukla

Purvi Majethia

Rory J Olson

Karthik Muthusamy

Lisa A Schimmenti

Keith Starnes

Lucie Sedláčková

Katalin Štěrbová

Markéta Vlčková

Petra Laššuthová

Alena Jahodová

Brenda E Porter

Nathalie Couque

Estelle Colin

Clément Prouteau

Corinne Collet

Thomas Smol

Roseline Caumes

Fleur Vansenne

Francesca Bisulli

Laura Licchetta

Richard Person

Erin Torti

Kirsty McWalter

Richard Webster

Elizabeth E Gerard

Gaetan Lesca

Pierre Szepetowski

Ingrid E Scheffer

Heather C Mefford

Gemma L Carvill

Affiliated Authors: