<p>Ataxias are a group of diseases that result in a lack of coordinated muscle movement. Hereditary ataxias are genetically heterogeneous and it is reported that 40% of suspected genetic ataxias currently have an unknown cause. We used exome sequencing to detect mutations responsible for ataxia. We sequenced, when available, multiple individuals per family to identify family specific mutations and further confirmed segregation of variants using samples from available affected and unaffected family members.</p>

Ataxia Gene Identification by Integrated Genomic Analysis

1 selected publication including "Mutations in KCND3 cause spinocerebellar ataxia type 22" (152 citations)