Media Center

Weckhuysen, Sarah et al. Epilepsia.

Weckhuysen, Sarah et al. Epilepsia. 2016 May

Sarah Weckhuysen and colleagues report a study based on targeted sequencing of the genes encoding the components of the GATOR1 (DEPDC5, NPRL2, and NPRL3) and GATOR2 (MIOS, SEC13, SEH1L, WDR24, and WDR59) complex in European probands with focal epilepsy with or without focal cortical dysplasia. They identified four pathogenic variants in DEPDC5, two in NPRL2, and one in NPRL3 and showed hyperactivation of the mTORC1 pathway in brain tissue from patients with NPRL2 and NPRL3 mutations.



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