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

"Alamut Visual has dramatically improved our research capabilities and our testing workflow related to both NGS and Sanger based tests. We wouldn't want to imagine a world without it.
Alamut Batch is an intuitive, comprehensive and cost-effective solution to annotation."

ADAM COOVADIA
Johns Hopkins Medicine, All Children's Hospital

Events

15.10.2019

ASHG 2019

USA

15.06.2019

ESHG 2019

Sweden