Spectrum of epilepsy and electroencephalogram patterns in idic (15) syndrome

Agatino Battaglia, Laura Bernardini, Isabella Torrente, Antonio Novelli, Gloria Scarselli

Research output: Contribution to journalArticlepeer-review

Abstract

Previous reports summarized the seizure types occurring in patients with idic(15) syndrome. To better define this issue, we retrospectively analyzed the evolution of electroencephalogram findings and seizures in 35 patients with confirmed idic(15). Epilepsy occurred in 28 patients (80%), with a median age of onset of 3 years 3 months. The initial seizures were infantile spasms associated with a hypsarrhythmic electroencephalogram (nine patients), focal/generalized tonic (seven patients), or atypical absences (eight patients). High doses of oral steroids were given in all nine children with infantile spasms, with remission of seizures and resolution of electroencephalogram abnormalities. Among them, three were seizure free at the time of evaluation, but six later developed Lennox-Gastaut syndrome or Lennox-Gastaut-like syndrome. The eight patients with atypical absences developed Lennox-Gastaut syndrome or Lennox-Gastaut-like syndrome. Epilepsy was well controlled in 32% of the patients; satisfactorily controlled (seizures reduced >75%) in 21.4%; partially controlled (seizures reduced

Original languageEnglish
JournalAmerican Journal of Medical Genetics, Part A
DOIs
Publication statusAccepted/In press - 2016

Keywords

  • Epilepsy
  • Idic(15)
  • Infantile spasms
  • Inv dup(15)
  • Lennox-Gastaut syndrome

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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