Genetic testing enhances diagnostic accuracy in pediatric epilepsy, allowing for personalized treatment and better prognostic predictions.
Interpreting genetic test results is challenging due to complex data, variants of uncertain significance, and the necessity for genetic counseling.
Whole-exome sequencing and targeted gene panels differ in scope, affecting clinical decisions and treatment strategies based on genetic findings.
A genetic diagnosis can guide targeted therapies and inform family planning, optimizing epilepsy management and patient outcomes.
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John Michael Schreiber, MD, describes the benefits of genetic testing for pediatric epilepsy diagnoses, noting the challenges associated with interpreting test results, and highlights key differences between genetic tests and their implications for clinical decisions, discussing how a genetic diagnosis can inform and guide epilepsy treatment.