Functional phenotype variations of two novel KV 7.1 mutations identified in patients with Long QT syndrome.
Sofia Hammami BomholtzMarwan M RefaatAnnette Buur SteffensenJens-Peter DavidKarin EspinosaRobert NussbaumJulianne WojciakBo Hjorth BentzenMelvin ScheinmanNicole SchmittPublished in: Pacing and clinical electrophysiology : PACE (2020)
Both mutations, KV 7.1 A150T and L374H, led to loss of channel function. The degree of LOF may mirror the disease phenotype observed in the patients.