Neurological features and long-term follow-up in 15q11.2-13.1 duplication

Antonietta Coppola, Patrizia Ruosi, Lia Santulli, Salvatore Striano, Federico Zara, Pasquale Striano, Sanjay M. Sisodiya

Research output: Contribution to journalArticle

Abstract

Various rearrangements occurring in the 15q11-q13 region have been reported in association with epilepsy. Deletions are the most frequent and are associated with Angelman or Prader-Willi syndrome. Duplications feature complex phenotypes including developmental delay, autistic-like behaviour and seizures. Among these, trisomy has been described as a milder phenotype compared to tetrasomy, but reports are rare and the phenotype is not yet defined. Here we report two adult cases with a 15q11.2-13.1 duplication showing a complex and similar epileptic phenotype.

Original languageEnglish
Pages (from-to)614-618
Number of pages5
JournalEuropean Journal of Medical Genetics
Volume56
Issue number11
DOIs
Publication statusPublished - Nov 2013

Keywords

  • 15q11.2-q13.1 duplication
  • Array-CGH
  • Epilepsy
  • Language

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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