Rett syndrome and epilepsy: An update for child neurologists

Alison Dolce, Bruria Ben-Zeev, Sakkubai Naidu, Eric H. Kossoff

Research output: Contribution to journalReview article

47 Scopus citations

Abstract

Rett syndrome, a neurogenetic disorder predominantly affecting females, has many characteristic features including psychomotor retardation, impaired language development, hand stereotypies, gait dysfunction, and acquired microcephaly. Although each of these features undoubtedly contributes to the morbidity of this neurologic disorder, epilepsy is perhaps one of the most well-described and problematic, affecting as many as 50%-90% of patients. Seizures can often be refractory, requiring polytherapy and consideration of nonpharmacologic management (e.g., ketogenic diets and vagus nerve stimulation). In addition, many nonepileptic symptoms of Rett syndrome can occasionally be difficult to differentiate from seizures making clinical management and family counseling challenging. Our goal in this review is to better define the clinical and electrophysiological aspects of the epilepsy associated with Rett syndrome and provide practical guidance regarding management.

Original languageEnglish (US)
Pages (from-to)337-345
Number of pages9
JournalPediatric Neurology
Volume48
Issue number5
DOIs
StatePublished - May 1 2013

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Developmental Neuroscience
  • Clinical Neurology

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