IndraLab

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"In CACNA1G, we identified a c. 5144G> A mutation, causing an arginine-to-histidine (p.Arg1715His) change in the voltage sensor S4 segment of the T-type channel protein Cav3.1."

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"A heterozygous single point mutation in the CACNA1G gene which causes an arginine-to-histidine (p.Arg1715His) change in the S4 voltage-sensing region of the T-type voltage-gated Ca channel protein Ca(v)3.1 has concurrently been associated to SCA42 in ten families [64,65,66,67]."