A Novel Kv7.3 Variant in the Voltage-Sensing S4 Segment in a Family With Benign Neonatal Epilepsy: Functional Characterization and in vitro Rescue by β-Hydroxybutyrate - 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; et al. (Frontiers in physiology, 2020)
Keywords: BFNE; channelopathies; encephalopathy; KCNQ; ketogenic diet; Physiology