Article

Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature

2023-10-13

Abstract excerpt

<h4>ABSTRACT</h4> Sequence-based genetic testing currently identifies causative genetic variants in ∼50% of individuals with developmental and epileptic encephalopathies (DEEs). Aberrant changes in DNA methylation are implicated in various neurodevelopmental disorders but remain unstudied in DEEs. Rare epigenetic variations (“epivariants”) can drive disease by modulating gene expression at single loci, whereas gen...

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Literature Corpus work: 583c1b3b-90a2-57a2-818d-ef5496616f4b
DOI: 10.1101/2023.10.11.23296741

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