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The Role of Genetic Testing on the Management Pediatric Epilepsy

Epilepsy in Pediatric Population: Prevalence, Pathophysiology, and Disease Heterogeneity

Please provide an overview of epilepsy in infant and pediatric patients.

What is the prevalence of epilepsy in pediatric patients?

Please describe the pathophysiology of infantile and pediatric epilepsy.

How does the heterogeneity of the disease affect diagnosis?

John Michael Schreiber, MD, discusses how genetic testing enhances the diagnosis and management of pediatric epilepsy, emphasizing its importance in tailoring treatment strategies for affected patients.

John Michael Schreiber, MD, provides an overview of epilepsy in infant and pediatric patients, including its prevalence, and describes the pathophysiology of infantile and pediatric epilepsy, highlighting how the disease’s heterogeneity affects diagnosis.

John Michael Schreiber, MD, provides an overview of genetic testing, detailing the different types, including whole genome sequencing (WGS), whole exome sequencing (WES), multigene panels, comparative genomic hybridization (CGH), and chromosome microarray (CMA).

Types of Genetic Testing for Epilepsy Diagnosis

John Michael Schreiber, MD, expands on the role of genetic testing in identifying and diagnosing epilepsy, discussing when it is clinically indicated and who should receive it, while also addressing key considerations for selecting tests for pediatric patients based on individual presentations and clinical factors, and outlining how to choose the best testing options while recognizing potential barriers and expectations for health care providers, caregivers, and patients before and after testing.

Key Considerations for Genetic Testing Selection in Pediatric Patients with Epilepsy

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.

Importance of Genetic Testing for Pediatric Epilepsy Diagnosis and Treatment Decisions

John Michael Schreiber, MD, describes how he counsels and educates caregivers about the potential benefits and limitations of genetic testing, detailing his approach to educating them before testing, how he guides them in interpreting results and transitioning to clinical management afterward, and the role of genetic counseling, including when to refer to a genetic specialist; he also provides key takeaways on the role and value of genetic testing for pediatric epilepsy and discusses how providers should utilize next-generation sequencing (NGS) moving forward.

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

Epilepsy in infants and pediatric patients is a complex neurological disorder characterized by recurrent seizures. It affects approximately 0.5-1% of children, with higher prevalence in those with developmental disabilities. The pathophysiology involves abnormal electrical activity in the brain, often due to genetic mutations, structural brain abnormalities, or metabolic disorders. The heterogeneity of epilepsy, with its diverse etiologies and seizure types, complicates diagnosis and requires a comprehensive evaluation, including clinical assessment, neuroimaging, and genetic testing, to tailor individualized treatment plans and improve outcomes.

 video series brings together pairs of expert clinicians and physicians to independently provide their insights on the latest and most up-to-date clinical care for specific neurologic diseases and disorders.

Epilepsy in Pediatric Population: Prevalence, Pathophysiology, and Disease Heterogeneity

Key Takeaways

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

EP: 2.Types of Genetic Testing for Epilepsy Diagnosis

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

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