12/28/2025
Check out new research—offering the most detailed understanding of epilepsy in MECP2 Duplication Syndrome yet!
In a landmark analysis, a team from Ionis and Citizen examined real medical records from 50 people to learn how seizures and development unfold as children age.
Key insights:
⚡️ Seizures are extremely common.
Most kids with MECP2 Duplication Syndrome experience seizures—often beginning in early childhood (median onset ~7 years). By adolescence, more than 85% of participants develop seizures. Of all seizure types, atonic (drop) were the most common.
🧠 Seizures usually become severe and difficult to control.
Many participants:
• Experienced multiple types of seizures, such tonic-clonic, atonic, absence, myoclonic, focal, and epileptic spasms
• Tried many any-seizure medications
• Ultimately used several different types in an effort to manage seizures that frequently become treatment-resistant—with levitiracetam (often called Keppra) and diazepam (such as Valtoco or Nayzilam) prescribed most often
In this group, 20% of participants were eventually diagnosed with Lennox Gastaut Syndrome.
🏥 Seizure burden is high.
Daily or weekly seizures were common, requiring at least one seizure-related hospitalization. Admission typically lasted up to a week—highlighting the challenges of seizure management.
Thanks to the researchers who have set this new benchmark—and especially to all the families who made this study possible by participating in the Citizen online natural history study. Stay tuned for Part 2 to learn more!
