SIG | Children's Hour: Precision Therapies in Pediatric Epilepsy
Friday, December 3, 2021
-
You may need to log in to view video on this page.
OVERVIEW:
The 2021 Children's Hour Special Interest Group explores recent advances in precision therapy in pediatric epilepsies, from diagnostic testing to drug development and gene therapy.
Precision medicine, involving specialized therapy targeted to underlying disease and genetic factors of individual patients, has made tremendous progress in pediatric epilepsies. As precision therapy first relies on detailed genetic characterization of patients, advances in genetic testing have identified a number of molecular etiologies for epilepsies and assessed the pathogenicity of variants of uncertain significance (VUS). Innovative approaches for developing ‘designer drugs’ targeting specific molecular defects have led to novel therapies for genetic epilepsies, particularly ion channel modulators for channelopathies. Furthermore, gene therapy, the ultimate precision treatment, has begun testing in clinical trials in some pediatric epilepsies, such as Dravet Syndrome.
In this SIG, a panel of experts discuss the use of deep mutation scanning to identify pathogenic mutations and assess VUS in glucose transporter deficiency. Next, the development of targeted drug therapies, utilizing molecular and electrophysiological characterization of mutant channel proteins for individualized patient screening(such as for KCNQ2 channelopathies) is investigated. Finally, exciting progress in gene therapy trials for Dravet Syndrome is reviewed. The Q&A focuses on how to customize these approaches to individual patients.
Learning Objectives:
Following participation in this activity, participants will be able to:
- Interpret genetic testing with variants of uncertain significance in Glut1 deficiency and other pediatric epilepsies
- Devise rational targeted treatment strategies for epilepsies due to channelopathies
- Identify advances in the development of gene and antisense oligonucleotide therapy for Dravet syndrome
Program:
SIG Coordinators: Jurriaan Peters, MD, PhD, FACNS, Michael Wong, MD, PhD, and Rohini Coorg, MD
Chair: Michael Wong, MD, PhD
Co-Chair: Rohini Coorg, MD
Precision Diagnostics and Prediction of Pathogenicity of Variants of Uncertain Significance in Glucose Transporter Deficiency using Deep Mutation Scanning | Christina Gurnett, MD, PhD
Precision Drug Development for Channelopathies Associated with Early-Life Epilepsies | Edward Cooper, MD, PhD
Precision Gene Therapy for Dravet Syndrome and Other Pediatric Epilepsies | Lori Isom, PhD, FAES
Education Credit:
1.5 Nursing Contact Hours
1.5 Pharmacy Contact Hours
1.5 CME
This educational activity is supported in part by an education grant Stoke Therapeutics