Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy

Developmental and epileptic encephalopathies (DEEs) are neurodevelopmental diseases characterized by refractory epilepsy, distinct electroencephalographic and neuroradiological features, and various degrees of developmental delay. Mutations in KCNQ2, KCNQ3, and, more rarely, KCNQ5 genes encoding vol...

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Detalles Bibliográficos
Autores principales: Nappi, Mario, Barrese, Vincenzo, Carotenuto, Lidia, Lesca, Gaetan, Labalme, Audrey, Ville, Dorothee, Smol, Thomas, Rama, Mélanie, Dieux-Coeslier, Anne, Rivier-Ringenbach, Clotilde, Soldovieri, Maria Virginia, Ambrosino, Paolo, Mosca, Ilaria, Pusch, Michael, Miceli, Francesco, Taglialatela, Maurizio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: National Academy of Sciences 2022
Materias:
Biological Sciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9169635/
https://www.ncbi.nlm.nih.gov/pubmed/35377796
http://dx.doi.org/10.1073/pnas.2116887119

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9169635/
https://www.ncbi.nlm.nih.gov/pubmed/35377796
http://dx.doi.org/10.1073/pnas.2116887119

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