Genomic testing and counseling: The contribution of next-generation sequencing to epilepsy genetics.
Lamia AlsubaieTaghrid AlorainiManal AmoudiAbdulrahman SwaidWafaa EyiadFuad Al MutairiFarouq AbabnehMuhammad Talal AlrifaiDuaa BaarmahWaleed AltwaijriNaser AlotaibiAshraf HarthiAhmad RumayyanAli AlanaziMohammad QrimliMajid AlfadhelAhmed AlfaresPublished in: Annals of human genetics (2020)
These findings have implications for our understanding of the approach to genetic testing and counseling of patients affected with seizures and epilepsy disorders. The overall diagnostic yield of exome/genome sequencing in our cohort was 23%. The main characteristic is genetic heterogeneity, supporting NGS technology as a suitable testing approach for seizures and epilepsy disorders. Genetic counseling for newly identified disease-causing variants depends on the pedigree interpretation, within the context of disease penetrance and variable expressivity.
Keyphrases
- copy number
- genome wide
- end stage renal disease
- temporal lobe epilepsy
- smoking cessation
- hiv testing
- ejection fraction
- single cell
- chronic kidney disease
- newly diagnosed
- peritoneal dialysis
- dna methylation
- prognostic factors
- men who have sex with men
- hepatitis c virus
- antiretroviral therapy
- patient reported
- cell free