Whole genome sequencing identifies pathogenetic genetic variants in a third of adults with unexplained developmental epileptic encephalopathies.
Why this matters
Although genetic mutations are heavily implicated in epilepsies, the molecular diagnosis of epilepsies is challenging. This novel study used whole genome sequencing to identify rare genetic variants in adults with unexplained developmental and epileptic encephalopathies, with inconclusive genetic tests. Furthermore, this is the first report of coding and non-coding tandem repeat expansions in people with Lennox-Gastaut syndrome. The findings support the use of whole genome sequencing to resolve previously unexplained epilepsies.