DHDDS related epilepsy – report of familial cases and review of the literature

The DHDDS and NUS1 genes encode two subunits of cisPTase, an essential enzyme in the dolichol-dependent protein glycosylation pathway.(1) Variants in these genes are associated with developmental and epileptic encephalopathy (DEE)(2-4) and more recently progressive myoclonic epilepsy (PME).(1)

Source: Seizure: European Journal of Epilepsy - June 15, 2021 Category: Neurology Authors: Katy Wood, Tara Montgomery, Anita M Devlin Source Type: research