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Article

Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies.

EBioMedicine - 1 Oct 2022

Krüger Johanna, Schubert Julian, Kegele Josua, Labalme Audrey, Mao Miaomiao, Heighway Jacqueline, Seebohm Guiscard, Yan Pu, Koko Mahmoud, Aslan-Kara Kezban, Caglayan Hande, Steinhoff Bernhard J, Weber Yvonne G, Keo-Kosal Pascale, Berkovic Samuel F, Hildebrand Michael S, Petrou Steven, Krause Roland, May Patrick, Lesca Gaetan, Maljevic Snezana, Lerche Holger

Abstract excerpt

BACKGROUND: De novo missense variants in KCNQ5, encoding the voltage-gated K+ channel KV7.5, have been described to cause developmental and epileptic encephalopathy (DEE) or intellectual disability (ID). We set out to identify disease-related KCNQ5 variants in genetic generalized epilepsy (GGE) and their underlying mechanisms. METHODS: 1292 families with GGE were studied by next-generation sequencing. Whole-cell...

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Epilepsy
Epilepsy, Generalized
Epilepsy research and treatment
Genomics and Rare Diseases

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Intellectual Disability

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PMID: 36088682
DOI: 10.1016/j.ebiom.2022.104244
PMCID: PMC9471468

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