Associated Papers
Case Report: Type II Bartter syndrome with a novel KCNJ1 variant in a premature neonate presenting with features of salt-wasting congenital adrenal crisis and pseudo-hypoaldosteronism.
Tsui HC et al.
Frontiers in Pediatrics, 2025
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_original_annotations_.xlsx › clinvar_result-6
Late-Onset Bartter Syndrome Type II Due to a Homozygous Mutation in KCNJ1 Gene: A Case Report and Literature Review.
Elfert KA et al.
The American Journal of Case Reports, 2020
Clinical and diagnostic features of Bartter and Gitelman syndromes.
Walsh PR et al.
Clinical Kidney Journal, 2018
Identification of compound heterozygous KCNJ1 mutations (encoding ROMK) in a kindred with Bartter's syndrome and a functional analysis of their pathogenicity.
Srivastava S et al.
Physiological Reports, 2013
Channelopathies of inwardly rectifying potassium channels.
Abraham MR et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 1999
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