Associated Papers
Diagnosis and Management of Keppen-Lubinsky Syndrome in a Lebanese Infant: A Case Report.
Fakih H
Cureus, 2025
Selectivity filter mutations shift ion permeation mechanism in potassium channels.
Mironenko A et al.
Pnas Nexus, 2024
Direct modulation of G protein-gated inwardly rectifying potassium (GIRK) channels.
Nguyen H et al.
Frontiers in Physiology, 2024
Expanding the spectrum of KCNJ6-related disorders: Milder phenotype with pathological startle responses.
van Midden VM et al.
Clinical Genetics, 2023
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
A selectivity filter mutation provides insights into gating regulation of a K+ channel.
Friesacher T et al.
Communications Biology, 2022
A novel ion conducting route besides the central pore in an inherited mutant of G-protein-gated inwardly rectifying K+ channel.
Chen IS et al.
The Journal of Physiology, 2022
Intellectual Disability and Potassium Channelopathies: A Systematic Review.
Kessi M et al.
Frontiers in Genetics, 2020
Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype.
Horvath GA et al.
Neuroscience, 2018
Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6.
Masotti A et al.
American Journal of Human Genetics, 2015
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