Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy

Rikke S Møller, Yvonne G Weber, Laura L Klitten, Holger Trucks, Hiltrud Muhle, Wolfram S Kunz, Heather C Mefford, Andre Franke, Monika Kautza, Peter Wolf, Dieter Dennig, Stefan Schreiber, Ina-Maria Rückert, H-Erich Wichmann, Jan P Ernst, Claudia Schurmann, Hans J Grabe, Niels Tommerup, Ulrich Stephani, Holger LercheHelle Hjalgrim, Ingo Helbig, Thomas Sander, EPICURE Consortium

Research output: Contribution to journalJournal articleResearchpeer-review

57 Citations (Scopus)

Abstract

Neurexins are neuronal adhesion molecules located in the presynaptic terminal, where they interact with postsynaptic neuroligins to form a transsynaptic complex required for efficient neurotransmission in the brain. Recently, deletions and point mutations of the neurexin 1 (NRXN1) gene have been associated with a broad spectrum of neuropsychiatric disorders. This study aimed to investigate if NRXN1 deletions also increase the risk of idiopathic generalized epilepsies (IGEs).
Original languageEnglish
JournalEpilepsia
Volume54
Issue number2
Pages (from-to)256-64
Number of pages9
ISSN0013-9580
DOIs
Publication statusPublished - Feb 2013

Keywords

  • Adult
  • Age of Onset
  • Anticonvulsants
  • Case-Control Studies
  • Cell Adhesion Molecules, Neuronal
  • DNA Copy Number Variations
  • Electroencephalography
  • Epilepsy, Generalized
  • Exons
  • Family
  • Female
  • Fructose
  • Gene Deletion
  • Genotype
  • Humans
  • Infant
  • Male
  • Microarray Analysis
  • Middle Aged
  • Nerve Tissue Proteins
  • Neuropsychological Tests
  • Odds Ratio
  • Pedigree
  • Triazines
  • Valproic Acid

Cite this