Neurology

Session # 2459

Genetic Testing in the Epilepsies: Testing Options, Diagnostic Yield, and Unique Challenges in Variant Interpretation.

The epilepsies are among the most common neurological conditions, affecting approximately 1% of the general population and are most common in childhood, affecting approximately 70 out of 100,000 children under the age of two years. Seizures are commonly encountered in the genetics clinic, as they are a common comorbidity of many known Mendelian disorders and many epilepsy syndromes have a strong genetic component. Recent data show that de novo alterations play an important role particularly in the early-onset epileptic encephalopathies

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