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Generalized myokymia, or neuromyotonia, or both in dogs with or without spinocerebellar ataxia.

An E VanhaesebrouckMario Van PouckeKimberley SteeNicolas GrangerEdward J IvesIris Van SoensIne CornelisKenny BossensLuc PeelmanLuc Van HamSofie F M Bhatti
Published in: Journal of veterinary internal medicine (2023)
The KCNJ10 c.627C>G variant, or rarely the CAPN1 c.344G>A variant, was confirmed to be the causal variant of spinocerebellar ataxia. We also report the presence of the KCNJ10 c.627C>G variant in the Dachshund breed. In dogs with myokymia and neuromyotonia alone the reported gene variants were not found. Other genetic or immune-mediated causes should be investigated to explain the clinical signs of these cases.
Keyphrases
  • copy number
  • genome wide
  • early onset
  • mass spectrometry
  • transcription factor