Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report

Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report

Abstract 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. Identify...

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Bibliographic Details
Main Authors: Denis M. Nyaga, Michael S. Hildebrand, Guillem deValles‐Ibáñez, Ngaire F. Keenan, Zimeng Ye, Christy W. LaFlamme, Heather C. Mefford, Mark F. Bennett, Melanie Bahlo, Lynette G. Sadleir
Format: Article
Language:English
Published: Wiley 2024-04-01
Series:Epilepsia Open
Subjects:
genetic testing
PAFAH1B1
SCN1A
SNP arrays
structural variants
whole‐genome sequencing
Online Access:https://doi.org/10.1002/epi4.12887

Internet

https://doi.org/10.1002/epi4.12887

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