Condition: Spinocerebellar ataxia 19
rs397515476
in
KCND3
gene and
Spinocerebellar ataxia 19
PMID 28895081
2018 Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia.
PMID 20050888
2010 EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.
PMID 23280837
2012 Mutations in KCND3 cause spinocerebellar ataxia type 22.
PMID 23280838
2012 Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.