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• W2012393013 abstract "Reports of primary isolated dystonia inherited in an autosomal-recessive (AR) manner, often lumped together as DYT2 dystonia, have appeared in the scientific literature for several decades, but no genetic cause has been identified to date. Using a combination of homozygosity mapping and whole-exome sequencing in a consanguineous kindred affected by AR isolated dystonia, we identified homozygous mutations in HPCA, a gene encoding a neuronal calcium sensor protein found almost exclusively in the brain and at particularly high levels in the striatum, as the cause of disease in this family. Subsequently, compound-heterozygous mutations in HPCA were also identified in a second independent kindred affected by AR isolated dystonia. Functional studies suggest that hippocalcin might play a role in regulating voltage-dependent calcium channels. The identification of mutations in HPCA as a cause of AR primary isolated dystonia paves the way for further studies to assess whether DYT2 dystonia is a genetically homogeneous condition or not." @default.
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• W2012393013 date "2015-04-01" @default.
• W2012393013 modified "2023-10-15" @default.
• W2012393013 title "Mutations in HPCA Cause Autosomal-Recessive Primary Isolated Dystonia" @default.
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• W2012393013 doi "https://doi.org/10.1016/j.ajhg.2015.02.007" @default.
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