Different electroclinical picture of generalized epilepsy in two families with 15q13.3 microdeletion

Antonietta Coppola, Irene Bagnasco, Monica Traverso, Alfredo Brusco, Eleonora Di Gregorio, Luigi Del Gaudio, Lia Santulli, Carmela Caccavale, Piernanda Vigliano, Carlo Minetti, Salvatore Striano, Federico Zara, Pasquale Striano

Research output: Contribution to journalArticle

Abstract

15q.13.3 microdeletion has been described in a variety of neurodevelopmental disorders. Epilepsy appears to be a common feature and, specifically, the 15q13.3 microdeletion is found in about 1% of patients with idiopathic generalized epilepsy. Recently, absence seizures with intellectual disability (ID) have been reported in patients carrying this mutation. We describe two families in which several affected members carry a 15q13.3 microdeletion in a pattern suggestive of autosomal dominant inheritance. Their phenotype includes mainly absence epilepsy and mild ID, suggesting only similarities with genetic/idiopathic generalized epilepsies but not typical features. The importance of studying such families is crucial to broaden the phenotype and understand the long-term outcome of patients with this condition.

Original languageEnglish
JournalEpilepsia
Volume54
Issue number5
DOIs
Publication statusPublished - May 2013

Keywords

  • 15q13.3 CNV
  • Absence seizures
  • Epilepsy
  • Genetics
  • Microdeletion

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

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  • Cite this

    Coppola, A., Bagnasco, I., Traverso, M., Brusco, A., Di Gregorio, E., Del Gaudio, L., Santulli, L., Caccavale, C., Vigliano, P., Minetti, C., Striano, S., Zara, F., & Striano, P. (2013). Different electroclinical picture of generalized epilepsy in two families with 15q13.3 microdeletion. Epilepsia, 54(5). https://doi.org/10.1111/epi.12130