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Spinocerebellar Ataxia Type 19/22

MedGen UID:
1711119
•Concept ID:
C5235656
•
Disease or Syndrome

Definition

An autosomal dominant form of spinocerebellar ataxia (SCA), caused by mutation(s) in the KCND3 gene, encoding potassium voltage-gated channel subfamily D member 3. SCA19 and SCA22 were initially described independently, but the molecular basis for both conditions is mutation(s) in the KCND3 gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpinocerebellar Ataxia Type 19/22

Recent clinical studies

Etiology

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, Wen Y, Zhang Q, Yu S, Chen Y, Wu X, Zhang Y, Bao X
Seizure 2019 Mar;66:26-30. Epub 2019 Jan 28 doi: 10.1016/j.seizure.2019.01.025. PMID: 30776697
Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant manner.
Duarri A, Lin MC, Fokkens MR, Meijer M, Smeets CJ, Nibbeling EA, Boddeke E, Sinke RJ, Kampinga HH, Papazian DM, Verbeek DS
Cell Mol Life Sci 2015 Sep;72(17):3387-99. Epub 2015 Apr 9 doi: 10.1007/s00018-015-1894-2. PMID: 25854634Free PMC Article

Diagnosis

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, Wen Y, Zhang Q, Yu S, Chen Y, Wu X, Zhang Y, Bao X
Seizure 2019 Mar;66:26-30. Epub 2019 Jan 28 doi: 10.1016/j.seizure.2019.01.025. PMID: 30776697

Clinical prediction guides

An E280K Missense Variant in KCND3/Kv4.3-Case Report and Functional Characterization.
Ågren R, Geerdink N, Brunner HG, Paucar M, Kamsteeg EJ, Sahlholm K
Int J Mol Sci 2023 Jun 30;24(13) doi: 10.3390/ijms241310924. PMID: 37446101Free PMC Article
Relationship between type 1 metabotropic glutamate receptors and cerebellar ataxia.
Ishibashi K, Miura Y, Ishikawa K, Zhang MR, Toyohara J, Ishiwata K, Ishii K
J Neurol 2016 Nov;263(11):2179-2187. Epub 2016 Aug 8 doi: 10.1007/s00415-016-8248-3. PMID: 27502082

Supplemental Content

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