Publications by authors named "Talia Allan"
DNA methylation signatures ("episignatures") can be used as biomarkers of genetic aberrations, clinical phenotypes, and environmental exposures in rare diseases. Episignatures are utilized in molecular diagnostics and can clarify variants of uncertain significance. A growing number of disease genes, including epilepsy genes, exhibit robust and reproducible episignatures.
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- Pathogenic variants in the STXBP1 gene are linked to developmental and epileptic encephalopathy (DEE), often resulting in drug-resistant epilepsy and increased mortality risk, primarily from sudden unexpected death in epilepsy (SUDEP).
- A study analyzed data from 40 individuals with STXBP1 variants who died, revealing a mortality rate of 3.2% and median age of death at 13 years; the leading causes were SUDEP (36%) and respiratory complications (33%).
- Findings highlight the importance of understanding mortality risks in STXBP1-related disorders, aiding in prognostic evaluations, genetic counseling, and the development of preventative strategies for affected families.
Article Synopsis
- Sequence-based genetic testing finds causative variants in about 50% of cases of developmental and epileptic encephalopathies (DEEs), but DNA methylation changes in these cases have not been thoroughly explored.
- This study analyzed genome-wide DNA methylation in blood samples from 582 individuals with unresolved DEEs, identifying rare methylation patterns and potential genetic causes in 12 of these cases.
- The research highlights the effectiveness of DNA methylation analysis in diagnosing DEEs, showing a 2% diagnostic yield, and provides insights into the CHD2 gene's pathophysiology using advanced sequencing methods.
Article Synopsis
- Sequence-based genetic testing currently identifies genetic variants in about half of individuals with developmental and epileptic encephalopathies (DEEs), but DNA methylation changes have not been explored in this context.
- This study analyzed genome-wide DNA methylation in blood samples from 516 individuals with unresolved DEEs, uncovering rare methylation changes that helped identify genetic causes in 10 cases.
- The findings suggest that DNA methylation analysis can enhance diagnostic accuracy for DEEs, offering a similar increase in yield to traditional genome sequencing techniques.