Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

  • 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).
OriginalsprogEngelsk
TidsskriftEpilepsia
Vol/bind54
Udgave nummer2
Sider (fra-til)256-64
Antal sider9
ISSN0013-9580
DOI
StatusUdgivet - feb. 2013

ID: 47455383