Course Description:
Many childhood epilepsies and epileptic encephalopathies include both epileptic and nonepileptic motor phenomena, often with similar semiology. The paroxysmal, stereotyped and overlapping nature of these symptoms can make diagnosis and management challenging for both physicians and families. This seminar will highlight disorders that present with both seizures and abnormal movements, including photosensitive generalized epilepsies (such as Jeavons and Sunflower Syndrome) and conditions with defined genetic etiologies (including those related to the TBC1D24, GNAO1, SCN8A, PRRT2, SLC2A1, and ATP1A3 genes). The session will focus on the phenotypic features of these syndromes, challenges that arise in diagnosis and treatment, and management pearls including discussion of disease-specific therapies under development.
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