Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K+ channelopathies.

doi:10.1038/s41431-021-00818-9

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Article

Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K+ channelopathies.

European journal of human genetics : EJHG - 1 Sept 2021

Gripp Karen W, Smithson Sarah F, Scurr Ingrid J, Baptista Julia, Majumdar Anirban, Pierre Germaine, Williams Maggie, Henderson Lindsay B, Wentzensen Ingrid M, McLaughlin Heather, Leeuwen Lisette, Simon Marleen E H, van Binsbergen Ellen, Dinulos Mary Beth P, Kaplan Julie D, McRae Anne, Superti-Furga Andrea, Good Jean-Marc, Kutsche Kerstin

Abstract excerpt

Decreased or increased activity of potassium channels caused by loss-of-function and gain-of-function (GOF) variants in the corresponding genes, respectively, underlies a broad spectrum of human disorders affecting the central nervous system, heart, kidney, and other organs. While the association of epilepsy and intellectual disability (ID) with variants affecting function in genes encoding potassium channels is...

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PMID: 33594261
DOI: 10.1038/s41431-021-00818-9
PMCID: PMC8440610

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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