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Opinion|Videos|November 21, 2024

Importance of Genetic Testing for Pediatric Epilepsy Diagnosis and Treatment Decisions

Author(s)John Michael Schreiber, MD

Key Takeaways

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.

SHOW MORE

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.

Episodes in this series

EP. 1 Epilepsy in Pediatric Population: Prevalence, Pathophysiology, and Disease Heterogeneity

EP. 1 Epilepsy in Pediatric Population: Prevalence, Pathophysiology, and Disease Heterogeneity

EP. 2 Types of Genetic Testing for Epilepsy Diagnosis

EP. 2 Types of Genetic Testing for Epilepsy Diagnosis

EP. 3 Key Considerations for Genetic Testing Selection in Pediatric Patients with Epilepsy

EP. 3 Key Considerations for Genetic Testing Selection in Pediatric Patients with Epilepsy

EP. 4 Importance of Genetic Testing for Pediatric Epilepsy Diagnosis and Treatment Decisions

EP. 4 Importance of Genetic Testing for Pediatric Epilepsy Diagnosis and Treatment Decisions

EP. 5 Importance of Genetic Counseling and Next-Generation Sequencing for Pediatric Epilepsy Diagnosis

EP. 5 Importance of Genetic Counseling and Next-Generation Sequencing for Pediatric Epilepsy Diagnosis

Please describe the benefits of genetic testing in regard to pediatric epilepsy diagnoses.
1. What are some of the challenges when interpreting test results?
Please highlight key differences between genetic tests when interpreting results and how they may impact clinical decisions.
1. How might a genetic diagnosis inform epilepsy treatment?

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