CACNA1A variant associated with generalized dystonia.
Domiziana RinaldiMarta Maria TangariClaudia LeddaFrancesca DematteisMario Giorgio RizzoneLeonardo LopianoCarlo Alberto ArtusiPublished in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2024)
Only a few studies reported dystonia as part of the clinical features in carriers of CACNA1A mutations. This case points out the relevance of a need to expand the literature on voltage-dependent P/Q-type Ca2 + channels' role in dystonia's pathogenesis and stresses the complex phenotype-genotype presentation of CACNA1A mutation.