Eating-induced epileptic spasms in a boy with MECP2 duplication syndrome: Insights into pathogenesis of genetic epilepsies

Luca De Palma, Clementina Boniver, Matteo Cassina, Irene Toldo, Margherita Nosadini, Maurizio Clementi, Stefano Sartori

Research output: Contribution to journalArticle

Abstract

Duplication of MECP2 causes a recently described X-linked mental retardation syndrome, of which the typical features are infantile hypotonia, poor speech development, recurrent infections, epilepsy, and progressive spasticity. Recently, the associated seizure semiology and interictal EEG features have been increasingly described, where as ictal electroclinical features remain poorly defined. We report the case of a boy carrying a maternally-inherited MECP2 duplication and describe the video-EEG sequence of a cluster of eating-induced spasms, the only epileptic manifestation of the patient. This report expands our knowledge of the epileptic phenotype of MECP2 duplication syndrome and may contribute to a better definition and comprehension of the electroclinical spectrum of patients affected by this disease. It also supports the hypothesis that in some genetic epilepsies, the electro-clinical profile can correlate with the dysfunction of limited cortical regions despite the presence of a genetic mutation over the entire brain.

Original languageEnglish
Pages (from-to)414-417
Number of pages4
JournalEpileptic Disorders
Volume14
Issue number4
DOIs
Publication statusPublished - Dec 2012

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Keywords

  • CGH array
  • Eating-induced epileptic spasm
  • Focal seizures
  • MECP2 duplication syndrome
  • Reflex epilepsy

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

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