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Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect.
Yang F, Begemann A, Reichhart N, Haeckel A, Steindl K, Schellenberger E, Sturm RF, Barth M, Bassani S, Boonsawat P, Courtin T, Delobel B; EuroEPINOMICS-RES Dravet working group; Gunning B, Hardies K, Jennesson M, Legoff L, Linnankivi T, Prouteau C, Smal N, Spodenkiewicz M, Toelle SP, Van Gassen K, Van Paesschen W, Verbeek N, Ziegler A, Zweier M, Horn AHC, Sticht H, Lerche H, Weckhuysen S, Strauß O, Rauch A. Yang F, et al. Among authors: haeckel a. Am J Hum Genet. 2024 Jun 6;111(6):1184-1205. doi: 10.1016/j.ajhg.2024.04.014. Epub 2024 May 13. Am J Hum Genet. 2024. PMID: 38744284 Free PMC article.
Anoctamin-4 is a bona fide Ca2+-dependent non-selective cation channel.
Reichhart N, Schöberl S, Keckeis S, Alfaar AS, Roubeix C, Cordes M, Crespo-Garcia S, Haeckel A, Kociok N, Föckler R, Fels G, Mataruga A, Rauh R, Milenkovic VM, Zühlke K, Klussmann E, Schellenberger E, Strauß O. Reichhart N, et al. Among authors: haeckel a. Sci Rep. 2019 Feb 19;9(1):2257. doi: 10.1038/s41598-018-37287-y. Sci Rep. 2019. PMID: 30783137 Free PMC article.
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