Next-generation sequencing in pediatric-onset epilepsies: Analysis with target panels and personalized therapeutic approach
Castellotti et al.
Presentation by Dr. Alex Marshall
0:05 - Introduction and welcome
2:06 - Background on next-generation sequencing in pediatric epilepsy
3:05 - Importance of specific molecular diagnosis
3:50 - Tailoring treatment options based on genetic causes
5:19 - Study details: Retrospective study in Milan
7:18 - Clinical and genetic data collection
8:27 - Results: Proportion of patients with specific molecular diagnosis
10:28 - Phenotypic features and genetic testing
12:33 - Diagnostic rates on NGS panels
13:39 - Precision medicine therapy levels
15:00 - Strengths and limitations of the study
Discussion
0:33 - Study Overview:Â Dr. Marshall presented a substantial monocentric genetic study involving around 500 patients, highlighting the homogeneity in phenotype categorization and investigation.
1:10 - Genetic Bias Concerns:Â Discussion of the potential bias in genetic results due to the study being conducted in northern Italy and the need to investigate variations across different populations.
3:19 - Precision Treatments:Â Explanation of current precision treatments for epilepsy, including diet and vitamin-based treatments, and the potential benefits of non-pharmacological therapies for pediatric patients.
7:32 - Genetic Testing Benefits:Â The team emphasized the importance of expedited genetic testing in choosing appropriate treatments and avoiding ineffective ones, particularly for developmental and epileptic encephalopathies.
10:05 - Practical Implementation:Â Discussion of the practicalities of implementing precision medicine in clinical settings, considering the cost-effectiveness and applicability of genetic testing for epilepsy patients.
Early Diagnosis Importance:Â The team reinforced the importance of early and thorough investigation, including genetic testing, in pediatric epilepsy to reduce developmental delays and intractable epilepsy in adulthood.
A retrospective non-interventional study evaluating the pharmacokinetic interactions between cenobamate and clobazam
Elakkary et al.
Presentation by Dr. Sally Elakkary
1:08 - Retrospective Study in Bielefeld
1:29 - Mechanism of Action of cenobamate
2:07 - Interaction with clobazam
2:57 - Effect of cenobamate on Metabolism
3:31 - Patient Data Collection
4:06 - Patient Demographics and Study Limitations
7:09 - Genetic Factors Affecting Results
9:03 - Pharmacodynamic and Pharmacokinetic Effects
11:02 - Importance of Drug Monitoring