A homozygous KCNJ10 mutation in Jack Russell Terriers and related breeds with spinocerebellar ataxia with myokymia, seizures, or both.

The similarities between the clinical signs exhibited by the affected RGTs, the human patients with the KCNJ10 ‐deficiency syndromes, and the Kcnj10 knockout mouse models together with the highly significant association between the RGT spinocerebellar ataxia phenotype and homozygosity for the KCNJ10:c.627G allele strongly suggest that the KCNJ10:c.627C>G transversion is the mutation responsible for the autosomal recessive spinocerebellar ataxia in the 14 ataxic RGTs.

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