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.
"In developing new genetic assays and evaluating the implications of newly identified sequence variations, Alamut helps me work faster and safer to ensure and document quality in assay design and interpretations."
HELGE ROOTWELT M.D. Ph.D.
Oslo University Hospital, Norway