Associated Papers
Opening closed inward rectifier potassium channel doors.
Stary-Weinzinger A et al.
British Journal of Pharmacology, 2026
A systematic review of hereditary neurological disorders diagnosed by whole exome sequencing in Pakistani population: updates from 2014 to November 2024.
Ahmad R et al.
Neurogenetics, 2025
Atomic-level investigation of KCNJ2 mutations associated with ventricular arrhythmic syndrome phenotypes.
Munawar S et al.
Scientific Reports, 2025
Kir2.1 mutations differentially increase the risk of flecainide proarrhythmia in Andersen Tawil Syndrome.
Cruz FM et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Catheter ablation of frequent monomorphic ventricular arrhythmias in Andersen-Tawil syndrome: case report and focused literature review.
Keegan R et al.
Journal of Interventional Cardiac Electrophysiology : an International Journal of Arrhythmias and Pacing, 2023
Inward rectifier potassium (Kir) channels in the retina: living our vision.
Beverley KM et al.
American Journal of Physiology. Cell Physiology, 2022
Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.
Coyote-Maestas W et al.
Elife, 2022
35639599 (PubMed )
Supplement: elife-76903-data1.zip › SourceData › input_data › KCNJ_Clinvar_0325322_edited_annotations_.xlsx › clinvar_KCNJx_0325322
Andersen-Tawil Syndrome Is Associated With Impaired PIP2 Regulation of the Potassium Channel Kir2.1.
Handklo-Jamal R et al.
Frontiers in Pharmacology, 2020
Whole exome sequencing identified a heterozygous KCNJ2 missense variant underlying autosomal dominant familial hypokalemic periodic paralysis in a Pakistani family.
Ullah A et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2019
Phenotypic variability in a series of four pediatric patients with Andersen-Tawil syndrome: A Saudi experience.
Alrashed NA et al.
International Journal of Pediatrics & Adolescent Medicine, 2019
Case report: A Chinese child with Andersen-Tawil syndrome due to a de novo KCNJ2 mutation.
Liu XL et al.
Journal of the Neurological Sciences, 2015
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