Dystonia caused by ANO3 variants is due to attenuated Ca2+ influx by ORAI1
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DOI: 10.1186/s12916-024-03839-5
Abstract: 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… read more here.
Keywords: dystonia caused; ca2 influx; dystonia; ano3 variants ... See more keywords