Director of epilepsy genetics at Children’s National Hospital.
The panelists discuss the non-seizure outcomes from the zorevunersen studies, including incremental developmental gains on the Vineland Adaptive Behavior Scales across three years, meaningful improvements in communication, and what it means for families when their children gain functional skills that the natural history of Dravet would have predicted they would lose.
The panelists discuss the seizure efficacy data for zorevunersen, including 60 to 90% median reductions in motor seizures at the optimal dose, the absence of the honeymoon effect that commonly limits antiseizure medications in Dravet, and what sustained response over multiple years means for patients and clinicians.
The panelists discuss the four-study development program for zorevunersen -- MONARCH, SWALLOWTAIL, ADMIRAL, and LONGWING -- describing how the clinical research was structured to assess dosing, safety, and both seizure and non-seizure outcomes in an exceptionally treatment-resistant patient population.
The panelists walk through the antisense oligonucleotide mechanism of zorevunersen, explaining how it targets the wild-type SCN1A allele to increase NaV1.1 protein production, and why this approach is uniquely suited to the genetics of Dravet syndrome.
The panelists discuss the critical shift from seizure-focused management to targeting the underlying genetic etiology of Dravet syndrome, drawing on natural history data that shows developmental impairment progresses independently of seizure control.
Three epileptologists set the stage on Dravet syndrome, exploring the biological underpinnings of the disease, the cascading burden it places on patients and families, and why this condition demands far more than seizure management.
A duo of experts discussed the importance of addressing barriers such as provider comfort, access to genetic counselors, and insurance coverage to reduce diagnostic latency and standardize genetic testing for epilepsy. [WATCH TIME: 5 minutes]
A duo of experts discussed the importance of addressing barriers such as provider comfort, access to genetic counselors, and insurance coverage to reduce diagnostic latency and standardize genetic testing for epilepsy. [WATCH TIME: 5 minutes]
A duo of experts talked about 2 studies presented at AES 2024 that used the Pediatric Epilepsy Research Consortium genetics database to study factors influencing latency in genetic testing and drug-resistant epilepsy. [WATCH TIME: 5 minutes]
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.
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.
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.
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, 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.
November 7th 2024
