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36 articles related to "Kcnq1"

Articles

Original Research

Published on 31 May 2024

A mild phenotype associated with KCNQ1 p.V205M mediated long QT syndrome in First Nations children of Northern British Columbia: effect of additional variants and considerations for management

in Genetics of Common and Rare Diseases

  • Simona Bene Watts
  • Barbara Gauthier
  • Anders C. Erickson
  • Julie Morrison
  • Mavis Sebastian
  • Lawrence Gillman
  • Sarah McIntosh
  • Connie Ens
  • Elizabeth Sherwin
  • Rod McCormick
Frontiers in Pediatrics
doi 10.3389/fped.2024.1394105
  • 2,696 views
  • 2 citations

Original Research

Published on 19 Jul 2024

Novel KCNQ1 Q234K variant, identified in patients with long QT syndrome and epileptiform activity, induces both gain- and loss-of-function of slowly activating delayed rectifier potassium currents

in Clinical and Translational Physiology

  • Tadashi Nakajima
  • Shuntaro Tamura
  • Reika Kawabata-Iwakawa
  • Hideki Itoh
  • Hiroshi Hasegawa
  • Takashi Kobari
  • Shun Harasawa
  • Akiko Sekine
  • Masahiko Nishiyama
  • Masahiko Kurabayashi
Frontiers in Physiology
doi 10.3389/fphys.2024.1401822
  • 3,015 views
  • 3 citations

Original Research

Published on 22 Feb 2021

Compound Heterozygous KCNQ1 Mutations Causing Recessive Romano–Ward Syndrome: Functional Characterization by Mutant Co-expression

in Cardiac Rhythmology

  • Antonia González-Garrido
  • Mayra DomĂ­nguez-PĂ©rez
  • Leonor Jacobo-Albavera
  • Omar LĂłpez-RamĂ­rez
  • JosĂ© Guadalupe Guevara-Chávez
  • Oscar Zepeda-GarcĂ­a
  • Pedro Iturralde
  • Alessandra Carnevale
  • Teresa Villarreal-Molina
Frontiers in Cardiovascular Medicine
doi 10.3389/fcvm.2021.625449
  • 5,033 views
  • 8 citations