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

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 variants in genetic generalized epilepsy (GGE)...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9471468/
https://www.ncbi.nlm.nih.gov/pubmed/36088682
http://dx.doi.org/10.1016/j.ebiom.2022.104244

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9471468/
https://www.ncbi.nlm.nih.gov/pubmed/36088682
http://dx.doi.org/10.1016/j.ebiom.2022.104244

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