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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

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