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Article

CACNA1B mutation is linked to unique myoclonus-dystonia syndrome.

Human molecular genetics - 15 Feb 2015

Groen Justus L, Andrade Arturo, Ritz Katja, Jalalzadeh Hamid, Haagmans Martin, Bradley Ted E J, Jongejan Aldo, Verbeek Dineke S, Nürnberg Peter, Denome Sylvia, Hennekam Raoul C M, Lipscombe Diane, Baas Frank, Tijssen Marina A J

Abstract excerpt

Using exome sequencing and linkage analysis in a three-generation family with a unique dominant myoclonus-dystonia-like syndrome with cardiac arrhythmias, we identified a mutation in the CACNA1B gene, coding for neuronal voltage-gated calcium channels CaV2.2. This mutation (c.4166G>A;p.Arg1389His) is a disruptive missense mutation in the outer region of the ion pore. The functional consequences of the identified...

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PMID: 25296916
DOI: 10.1093/hmg/ddu513
PMCID: PMC4817404

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Source receipt: pubmed, retrieved 7 Sept 2026.

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