C123 - Child Neurology: Genetic and Metabolic Testing in Pediatric Epilepsy
Event Time: | Tuesday May 7, 2019 7:00 am to 9:00 am |
Topic(s): | Child Neurology and Developmental Neurology |
Director(s): | James Riviello MD |
Description: | The field of genetics is now central to understanding the neurobiology and pathophysiology of neurologic disorders. Recent advances in genetic testing, including next generation sequencing, is now critical in the diagnosis and management of epilepsy. The results of these genetic and metabolic tests impact the classification, treatment, and prognosis of epilepsy and the epilepsy syndromes. However, there is confusion regarding genetic testing, including which tests to do and the classification of abnormalities, particularly for mutations classified as pathogenic, variants of uncertain significance, or incidental. It is important for the neurologist to understand the biology of genetics, know the appropriate sequence of genetic testing, and understand the classification of genetic abnormalities. These tests impact the choice of anti-seizure treatments and which patients are appropriate for epilepsy surgery. This seminar will address these points using case presentations and didactics. |
Completion Message: | Participants should become familiar with the genetic mechanisms that underly neurologic disorders; the various genetic tests available for the epilepsies, including the proper sequence of testing; the classification and significance of the various mutations; and the medical and surgical implications of the genetic tests. |
CME Credits: | 2 |
Core Competencies: | Patient Care, Medical Knowledge, Practice-based Learning and Improvement, Systems-based Practice |
Start/End Time | Title | Faculty |
---|---|---|
7:00 AM - 7:10 AM | Introduction | James J. Riviello MD |
7:10 AM - 7:40 AM | Overview of Genetics in 2018, Especially Next Generation Sequencing | Tristan Timothy James Sands MD, PhD |
7:40 AM - 8:10 AM | The Diagnostic Approach to Genetic and Metabolic Testing in Epilepsy | Lisa T. Emrick MD |
8:10 AM - 8:40 AM | Medical and Surgical Implications of Genetic Testing in Epilepsy | James J. Riviello MD |
8:40 AM - 9:00 AM | Questions and Answers | Faculty |
Speaker | Disclosure |
---|---|
Lisa T. Emrick, MD | Dr. Emrick has received personal compensation in an editorial capacity for Medlink. Dr. Emrick has received research support from PI and Lysogene. |
James J. Riviello, Jr., MD | Dr. Riviello has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Penry Pediatric Epilepsy Course, American Academy of Neurology, University of Calgary, CLN2 Advisory Board, and BioMarin. Dr. Riviello has received personal compensation in an editorial capacity for UpToDate. |
Tristan Timothy James Sands, MD, PhD | Dr. Sands has nothing to disclose. |
Ready to register for the 2019 AAN Annual Meeting?
Related Courses
7:00 AM-9:00 AM |
---|
C4 -
Pediatric Neuro-ophthalmology Update
Christopher Glisson DO, FAAN |
9:30 AM-11:30 AM |
C14 -
Child Neurology: Headache
Amy Gelfand MD |
7:00 AM-9:00 AM |
---|
C40 -
Child Neurology: Stroke
Lori Billinghurst MD |
9:15 AM-12:00 PM |
Presidential Plenary Session
Natalia Rost MD, MPH, FAAN, FAHA |
11:30 AM-6:30 PM |
P1 -
Poster Session 1
|
3:30 PM-5:30 PM |
N1 -
Neuroscience in the Clinic: Child Neurology: Emerging Understanding of the Epilepsy-Movement Disorder Spectrum Across the Lifespan
Deborah Hall MD, PhD, FAAN, Erika Augustine MD, FAAN |
7:00 AM-9:00 AM |
---|
C82 -
Stroke in Young Adults and Women
Aneesh Singhal MD, FAAN |
11:30 AM-6:30 PM |
P2 -
Poster Session 2
|
1:00 PM-3:00 PM |
C92 -
Autism Spectrum Disorders What We Know and Where We Are Going
Rujuta Wilson MD |
3:00 PM-3:45 PM |
Child Neurology for Trainees
Rana Said MD, FAAN |
3:30 PM-5:30 PM |
S19 -
Child Neurology: Updates in Autism, Migraine, MS, and Stroke
|
7:00 AM-9:00 AM |
---|
11:30 AM-6:30 PM |
P3 -
Poster Session 3
|
1:00 PM-3:00 PM |
S25 -
Child Neurology: Spinal Muscular Atrophy: Treatments and Outcomes
|
3:30 PM-5:30 PM |
C161 -
Child Neurology: Metabolic
Marc Patterson MD, FAAN, FRACP |
7:00 AM-9:00 AM |
---|
C171 -
Child Neurology: Neuromuscular/Autoimmune Neurology
Anne Connolly MD, FAAN |
9:15 AM-11:30 AM |
Frontiers in Neuroscience Plenary Session
Paul George MD, PhD, MSE |
11:30 AM-6:30 PM |
P4 -
Poster Session 4
|
1:00 PM-3:00 PM |
C181 -
Treatment of Pediatric Multiple Sclerosis in the Current Era
Brenda Banwell MD, FAAN |
3:30 PM-5:30 PM |
C198 -
Integrating Sleep Medicine Concepts into Your Child Neurology Practice
Suresh Kotagal MD, FAAN |
7:00 AM-9:00 AM |
---|
C214 -
Child Neurology: A Case-based Approach
Elaine Wirrell MD, FAAN |
11:30 AM-6:30 PM |
P5 -
Poster Session 5
|
3:30 PM-5:30 PM |
S51 -
Child Neurology: Bench to Bedside: Progress in Treating Genetic Disorders
|
11:45 AM-12:45 PM |
---|
Friday Grand Finale: Neuroimaging
|
3:30 PM-4:30 PM |
C254 -
Education Blitz: Child Neurology: Concussion
Meeryo Choe MD |