Study advances understanding of complex neurological disorder

Scientists at St. Jude Children’s Research Hospital have found that DNA methylation patterns could assist in identifying the root cause of developmental and epileptic encephalopathies (DEEs). Existing testing methods can identify the cause of DEEs in approximately 50% of cases. The research suggests unsolved cases may be linked to rare genetic occurrences. This “episignature” approach, alongside long-read DNA sequencing, identified the origins of DEEs in 2% of previously unsolvable cases. The findings were published in Nature Communications.