A Novel Kv7.3 Variant in the Voltage-Sensing S(4) Segment in a Family With Benign Neonatal Epilepsy: Functional Characterization and in vitro Rescue by β-Hydroxybutyrate

Pathogenic variants in KCNQ2 and KCNQ3, paralogous genes encoding Kv7.2 and Kv7.3 voltage-gated K(+) channel subunits, are responsible for early−onset developmental/epileptic disorders characterized by heterogeneous clinical phenotypes ranging from benign familial neonatal epilepsy (BFNE) to early−o...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Front Physiol
Autors principals: Miceli, Francesco, Carotenuto, Lidia, Barrese, Vincenzo, Soldovieri, Maria Virginia, Heinzen, Erin L., Mandel, Arthur M., Lippa, Natalie, Bier, Louise, Goldstein, David B., Cooper, Edward C., Cilio, Maria Roberta, Taglialatela, Maurizio, Sands, Tristan T.
Format: Artigo
Idioma:Inglês
Publicat: Frontiers Media S.A. 2020
Matèries:
Physiology
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7498716/
https://ncbi.nlm.nih.gov/pubmed/33013448
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fphys.2020.01040
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars