O. Hikmat and colleagues conduct genetic investigation that revealed ADCK3 mutations in patients with childhood-onset epilepsy and progressive cerebellar ataxia including a novel change in exon 15: c.T1732G, p.F578V. There was no apparent genotype-phenotype correlation. They also suggested that ADCK3 mutations be considered in the differential diagnosis of mitochondrial encephalopathy with POLG-like features.
Hikmat, O. et al. European Journal of Neurology.
"We have found Alamut to be an immensely useful tool, and would recommend Alamut to anyone looking for a powerful yet straightforward software program that is able to accurately catalogue and evaluate mutations."
JOHN GARCIA, Invitae
San Francisco, USA