Media Center

Hikmat, O. et al. European Journal of Neurology.

Hikmat, O. et al. European Journal of Neurology. 2016 Apr

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.



What they say
about Alamut

"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

Events

15.10.2019

ASHG 2019

USA

15.06.2019

ESHG 2019

Sweden