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...

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Veröffentlicht in:Front Physiol
Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: Frontiers Media S.A. 2020
Schlagworte:
Physiology
Online Zugang: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
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