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Convulsions and ataxia, CACNA1A-related — Bovine familial convulsions and ataxia; cerebellar abiotropy

Reith et al. (2024): "Whole-genome sequencing was performed on the [Angus] sire, six affected and seven unaffectedpaternal half-sibling calves and combined with data from 135 unrelated controls. The sire and five of the six affected calves were heterozygous for a nonsense variant (Chr7 g.12367906C>T, c.5073C>T, p.Arg1681*) in CACNA1A. The other affected calves (N = 8) were heterozygous for the variant but it was absent in the other unaff...

OMIA ID: 1270Inheritance: 27Characterised: YesYear: 2024