Article
C-terminal proline deletions in KCNC3 cause delayed channel inactivation and an adult-onset progressive SCA13 with spasticity.
Cerebellum (London, England) - 1 Oct 2018
Khare Swati, Galeano Kira, Zhang Yalan, Nick Jerelyn A, Nick Harry S, Subramony S H, Sampson Jacinda, Kaczmarek Leonard K, Waters Michael F
Abstract excerpt
Mutations in the potassium channel gene KCNC3 (Kv3.3) cause the autosomal dominant neurological disease, spinocerebellar ataxia 13 (SCA13). In this study, we expand the genotype-phenotype repertoire of SCA13 by describing the novel KCNC3 deletion p.Pro583_Pro585del highlighting the allelic heterogeneity observed in SCA13 patients. We characterize adult-onset, progressive clinical symptoms of two afflicted kindred...
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