Article
Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report.
Epilepsia open - 1 Apr 2024
Nyaga Denis M, Hildebrand Michael S, de Valles-Ibáñez Guillem, Keenan Ngaire F, Ye Zimeng, LaFlamme Christy W, Mefford Heather C, Bennett Mark F, Bahlo Melanie, Sadleir Lynette G
Abstract excerpt
About 50% of individuals with developmental and epileptic encephalopathies (DEEs) are unsolved following genetic testing. Deep intronic variants, defined as >100 bp from exon-intron junctions, contribute to disease by affecting the splicing of mRNAs in clinically relevant genes. Identifying deep intronic pathogenic variants is challenging and resource intensive, and interpretation is difficult due to limited...
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