Article
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5.
Neurology - 7 Feb 2023
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
Abstract excerpt
BACKGROUND AND OBJECTIVES: 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. METHODS: We screened 893 individuals with developmental and epileptic encephalopathies for KCNH5 variants using targeted or exome sequencing. Additional individuals with KCNH5 variants were identified through...
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