Dystonia caused by ANO3 variants is due to attenuated Ca 2+ influx by ORAI1
Dystonia caused by ANO3 variants is due to attenuated Ca 2+ influx by ORAI1
About this item
Full title
Dystonia caused by ANO3 variants is due to attenuated Ca 2+ influx by ORAI1
Author / Creator
Publisher
England
Journal title
BMC medicine, 2025-01, Vol.23 (1), p.12
Language
English
Formats
Publication information
Publisher
England
Subjects
More information
Scope and Contents
Contents
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.
We applied electrophysi...
Alternative Titles
Full title
Dystonia caused by ANO3 variants is due to attenuated Ca 2+ influx by ORAI1
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmed_primary_39773217
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmed_primary_39773217
Other Identifiers
E-ISSN
1741-7015
DOI
10.1186/s12916-024-03839-5
