- Mutations in the ANO3 gene cause dystonia by disrupting calcium signaling and potassium channel activation.
- Different ANO3 variants are correlated with distinct clinical phenotypes.
- Dysregulated Ca²⁺ signaling by ANO3 variants may impair the activation of K⁺ channels in striatal neurons, causing dystonia.
- Riluzole is identified as a potential treatment strategy for ANO3-related dystonia.
- The study emphasizes the need for additional research, including transgenic animal models to fully understand the impact of these mutations.
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