Ontology highlight
ABSTRACT:
SUBMITTER: Groen JL
PROVIDER: S-EPMC4817404 | biostudies-literature | 2015 Feb
REPOSITORIES: biostudies-literature
Human molecular genetics 20141008 4
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 mutation were studied using whole-cell and single-channel patch recordings. High-res ...[more]