Article

Genome sequencing boosts diagnostic yield for the developmental and epileptic encephalopathies

2026-04-28

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose</h4> Although most developmental and epileptic encephalopathies (DEEs) have a monogenic aetiology, routine clinical genetic testing is negative for 50% of patients. We hypothesized that the diagnostic yield could be increased in a large cohort of individuals with unsolved DEEs by applying genome sequencing along with enhanced variant analyses outside of coding regions. <h4>Methods</...

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Literature Corpus work: 88267053-b38c-5466-a9d0-723b585a8149
DOI: 10.64898/2026.04.24.26351703

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