Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy

Research output: Contribution to journalJournal articleResearchpeer-review

  • 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
  • Tommerup, Niels
  • Ulrich Stephani
  • Holger Lerche
  • Helle Hjalgrim
  • Ingo Helbig
  • Thomas Sander
  • EPICURE Consortium
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

    Research areas

  • 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

ID: 47455383