Mutations in KCND3 cause spinocerebellar ataxia type 22.

doi:10.1002/ana.23701

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Article

Mutations in KCND3 cause spinocerebellar ataxia type 22.

Annals of neurology - 1 Dec 2012

Lee Yi-Chung, Durr Alexandra, Majczenko Karen, Huang Yen-Hua, Liu Yu-Chao, Lien Cheng-Chang, Tsai Pei-Chien, Ichikawa Yaeko, Goto Jun, Monin Marie-Lorraine, Li Jun Z, Chung Ming-Yi, Mundwiller Emeline, Shakkottai Vikram, Liu Tze-Tze, Tesson Christelle, Lu Yi-Chun, Brice Alexis, Tsuji Shoji, Burmeister Margit, Stevanin Giovanni, Soong Bing-Wen

Abstract excerpt

OBJECTIVE: To identify the causative gene in spinocerebellar ataxia (SCA) 22, an autosomal dominant cerebellar ataxia mapped to chromosome 1p21-q23. METHODS: We previously characterized a large Chinese family with progressive ataxia designated SCA22, which overlaps with the locus of SCA19. The disease locus in a French family and an Ashkenazi Jewish American family was also mapped to this region. Members from all...

Topics

Adolescent
Adult
Asian People
Chromosomes, Human, Pair 1
DNA Mutational Analysis
Family Health
Female
Genetic Linkage
Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Green Fluorescent Proteins

HEK293 Cells

Humans

Male

Membrane Potentials

Middle Aged

Mutation

Patch-Clamp Techniques

Shal Potassium Channels

Source

Open in PubMed Open full text

Identifiers

PMID: 23280837
DOI: 10.1002/ana.23701
PMCID: PMC4085146

Genes

KCND3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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Mutations in KCND3 cause spinocerebellar ataxia type 22.PMID 23280837Read ↗

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