Novel CACNA1A Variant p.Cys256Phe Disrupts Disulfide Bonds and Causes Spinocerebellar Ataxia.
Yuliia V NikonishynaNadine J OrtnerTeresa KasererJessica HoffmannSaskia BiskupManuel DafotakisKathrin ReetzJörg B SchulzJörg StriessnigMaike F DohrnPublished in: Movement disorders : official journal of the Movement Disorder Society (2021)
Our results support the pathogenicity of the C256F variant for the SCA phenotype and provide further insight into Cav2.1 structure and function.