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Take 5 minutes to catch up on NeurologyLive®'s highlights from the week ending December 20, 2024. 

NeurologyLive® Friday 5 — December 20, 2024

Managing ALS, particularly its respiratory complications, requires a collaborative multidisciplinary team—including neurologists, pulmonologists, and respiratory therapists—working together to address the complexities of respiratory failure, the leading cause of death in these patients.

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, has been with the team since September 2022. Follow her on Twitter 

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The Role of Genetic Testing on the Management Pediatric Epilepsy

Types of Genetic Testing for Epilepsy Diagnosis

Please provide an overview of genetic testing.

What are the different types of genetic testing?

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.

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

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).

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

Genetic testing encompasses a range of techniques used to analyze DNA, RNA, chromosomes, and proteins to detect genetic disorders, mutations, or predispositions. Whole genome sequencing (WGS) examines the entire genome, while whole exome sequencing (WES) focuses on coding regions. Multigene panels target specific sets of genes associated with particular conditions. Comparative genomic hybridization (CGH) and chromosome microarray (CMA) are used to identify chromosomal abnormalities. These tests aid in diagnosis, treatment planning, and risk assessment, offering personalized insights into genetic health and disease management.

 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.

Types of Genetic Testing for Epilepsy Diagnosis

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