C-terminal proline deletions in KCNC3 cause delayed channel inactivation and an adult-onset progressive SCA13 with spasticity

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 heterogen...

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Bibliografiske detaljer
Udgivet i:Cerebellum
Main Authors: Khare, Swati, Galeano, Kira, Zhang, Yalan, Nick, Jerelyn A., Nick, Harry S., Subramony, S. H., Sampson, Jacinda, Kaczmarek, Leonard K., Waters, Michael F.
Format: Artigo
Sprog:Inglês
Udgivet: 2018
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8299775/
https://ncbi.nlm.nih.gov/pubmed/29949095
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12311-018-0950-5
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