Dystonia caused by ANO3 variants is due to attenuated Ca2+ influx by ORAI1

URN to cite this document:: urn:nbn:de:bvb:355-epub-745877
DOI to cite this document:: 10.5283/epub.74587

Ousingsawat, Jiraporn

; Talbi, Khaoula ; Gómez-Martín, Hilario ; Koy, Anne ; Fernández-Jaén, Alberto ; Tekgül, Hasan ; Serdaroğlu, Esra ; Ortigoza-Escobar, Juan Darío ; Schreiber, Rainer

; Kunzelmann, Karl

License: Creative Commons Attribution 4.0
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Date of publication of this fulltext: 09 Jan 2025 07:29

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Abstract

Background Dystonia is a common neurological hyperkinetic movement disorder that can be caused by mutations in anoctamin 3 (ANO3, TMEM16C), a phospholipid scramblase and ion channel. We previously reported patients that were heterozygous for the ANO3 variants S651N, V561L, A599D and S651N, which cause dystonia by unknown mechanisms. Methods We applied electrophysiology, Ca2+ measurements and ...