LGI1 microdeletions are not a frequent cause of partial epilepsy with auditory features (PEAF)

P. Magini, F. Bisulli, S. Baldassari, C. Stipa, I. Naldi, L. Licchetta, V. Menghi, P. Tinuper, M. Seri, T. Pippucci

Research output: Contribution to journalArticle

Abstract

Heterozygous mutations of the leucine-rich, glioma-inactivated 1 gene (LGI1) are the major known cause of partial epilepsy with auditory features (PEAF), accounting for roughly 50% of families. Recently, a partial gene microdeletion has been reported in a single family.To assess the contribution of LGI1 microrearrangements to the pathogenesis of PEAF, we screened 50 patients negative for point mutations through multiplex ligation-dependent probe amplification (MLPA) analysis.No cryptic imbalances were found in LGI1, suggesting that LGI1 microdeletions are not a frequent cause of PEAF. Despite the small number of examined patients and the need for replication studies, these findings support the hypothesis that diagnostic screening for LGI1 microrearrangements lacks clinical utility, especially for sporadic cases, and further highlight genetic heterogeneity of familial and sporadic PEAF.

Original languageEnglish
Pages (from-to)972-977
Number of pages6
JournalEpilepsy Research
Volume108
Issue number5
DOIs
Publication statusPublished - 2014

Keywords

  • Genetic heterogeneity
  • LGI1
  • LTE
  • Microdeletions
  • MLPA
  • PEAF

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology
  • Medicine(all)

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