Electroclinical Features in MECP2 Duplication Syndrome: Pediatric Case Series

Jocelyn Lorenzo, Alison Dolce, Andrea Lowden

Research output: Contribution to journalArticlepeer-review

Abstract

Objective: MECP2 duplication syndrome (MECP2DS) is an x-linked recessive syndrome characterized by infantile hypotonia, severe neurodevelopmental delay, intellectual disability, progressive spasticity, recurrent infections, and seizures. More than 50% of cases have been associated with epilepsy. Seizure semiology and electroencephalogram (EEG) findings in these patients are poorly described. Methods: In this case series, the authors describe the electroclinical features of children with MECP2DS presenting to their institution. In addition, they reviewed seizure types and therapies used. Results: Eight out of 9 patients with MECP2DS developed epilepsy, with 56% having normal initial EEG. Generalized slowing with generalized and focal/multifocal discharges was the most common EEG pattern which is consistent with prior studies. Atonic seizure was the most common semiology. Majority were pharmacoresistant (63%). Conclusion: The goal of this case series is to better define the clinical and electrophysiological aspects of the epilepsy associated with MECP2 duplication syndrome and provide practical guidance regarding management.

Original languageEnglish (US)
Pages (from-to)1086-1094
Number of pages9
JournalJournal of child neurology
Volume36
Issue number12
DOIs
StatePublished - Oct 2021

Keywords

  • EEG
  • epilepsy
  • MECP2 duplication syndrome
  • MECP2DS
  • seizures

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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