Introduction

• Prevalence: Epilepsy affects 50–70% of individuals with RTT, though earlier studies suggested rates as high as 90%. Variability in study designs and diagnostic criteria contribute to these differences.
• Epileptic and Nonepileptic Events: RTT patients often experience nonepileptic paroxysmal events, which can complicate diagnosis.
• MECP2 Mutations: Epilepsy is more common in individuals without MECP2 mutations, often due to the early epileptic variant linked to CDKL5 mutations.

Natural History

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