Associated Papers
A Novel KCND3 Variant in a Korean Family With SCA19.
Ha H et al.
Journal of Clinical Neurology (seoul, Korea), 2022
35021282 (PubMed )
Supplement: jcn-18-90-s003.pdf
Gene mutational analysis in a cohort of Chinese children with unexplained epilepsy: Identification of a new KCND3 phenotype and novel genes causing Dravet syndrome.
Wang J et al.
Seizure, 2019
Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia.
Kurihara M et al.
Cerebellum (london, England), 2018
First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy.
Smets K et al.
Bmc Medical Genetics, 2015
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