Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement

W. LaFlamme, Christy; Rastin, Cassandra; Sengupta, Soham; E. Pennington, Helen; Russ-Hall, Sophie; Schneider, Amy; Bonkowski, Emily; P. Almanza Fuerte, Edith; J. Allan, Talia; Galey, Miranda; Goffena, Joy; B Gibson, Sophia; M. Nyaga, Denis; Lieffering, Nico; Hebbar, Malavika; Walker, Emily; Darnell, Daniel; R. Olsen, Scott; Kolekar, Pandurang; Nadhir Djekidel, Mohamed; Rosikiewicz, Wojciech; McConkey, Haley; Kerkhof, Jennifer; A. Levy, Michael; Relator, Raissa; Lev, Dorit; Lerman‐Sagie, Tally; Park, Kristen; Alders, Mariëlle; Cappuccio, Gerarda; Chatron, Nicolas; Demain, Leigh; Geneviève, David; Lesca, Gaëtan; Roscioli, Tony; Sanlaville, Damien; L. Tedder, Matthew; Gupta, Sachin; A. Jones, Elizabeth; Weisz‐Hubshman, Monika; Ketkar, Shamika; Dai, Hongzheng; C. Worley, Kim; A. Rosenfeld, Jill; Chao, Hsiao‐Tuan; Diseases Network, Undiagnosed; Neale, Geoffrey; L. Carvill, Gemma; Wang, Zhaoming; F. Berkovic, Samuel; G. Sadleir, Lynette; E. Miller, Danny; E. Scheffer, Ingrid; Sadiković, Bekim; C. Mefford, Heather

doi:10.1038/s41467-024-50159-6

Public

Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement

Published in Nature Communications • Aug 6, 2024

Authors:

Christy W. LaFlamme

Cassandra Rastin

Soham Sengupta

Abstract

Sequence-based genetic testing identifies causative 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. We interrogate the diagnostic utilit...

Subject

DNA methylation

Biology

Genetics

Research Assistant

AI chat, annotations, notes & similar papers

Finding related papers...

Discussions

(0)

No comments yet

Be the first to share your thoughts!