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

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

Publikováno v: European Journal of Human Genetics, 29, 1384-1395. Nature Publishing Group
European journal of human genetics, vol. 29, no. 9, pp. 1384-1395
European Journal of Human Genetics

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,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::918739748f0fdc6bed9c9af583939241
https://doi.org/10.1038/s41431-021-00818-9