Missense variants in the voltage sensing and pore domain of KCNH5 cause neurodevelopmental phenotypes including epilepsy
Hannah C. Happ, Lynette Grant Sadleir, Matthew Zemel, Guillem de Valles‐Ibáñez, Michael S. Hildebrand, Allyn McConkie‐Rosell, Marie McDonald, Halie J. May, Tristan T. Sands, Vimla S. Aggarwal, Christopher J. Elder, Timothy J. Feyma, Allan Bayat, Rikke Steensbjerre Møller, Christina Fenger, , Gemma L. Carvill
The paper reports a cohort of 17 patients with pathogenic KCNH5 variants causing neurodevelopmental disorders and epilepsy, identifying genotype-phenotype correlations.
medRxiv · Apr 26, 2022 · PreprintGenetic & Genomic Medicine