Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies.
Krüger J, Schubert J, Kegele J, Labalme A, Mao M, Heighway J, Seebohm G, Yan P, Koko M, Aslan-Kara K, Caglayan H, Steinhoff BJ, Weber YG, Keo-Kosal P, Berkovic SF, Hildebrand MS, Petrou S, Krause R, May P, Lesca G, Maljevic S, Lerche H.
Krüger J, et al.
EBioMedicine. 2022 Oct;84:104244. doi: 10.1016/j.ebiom.2022.104244. Epub 2022 Sep 9.
EBioMedicine. 2022.
PMID: 36088682
Free PMC article.
BACKGROUND: De novo missense variants in KCNQ5, encoding the voltage-gated K(+) channel K(V)7.5, have been described to cause developmental and epileptic encephalopathy (DEE) or intellectual disability (ID). We set out to identify disease-related KCNQ5 varian …
BACKGROUND: De novo missense variants in KCNQ5, encoding the voltage-gated K(+) channel K(V)7.5, have been described to cause development …