Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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).
Originalsprog | Engelsk |
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Tidsskrift | Epilepsia |
Vol/bind | 54 |
Udgave nummer | 2 |
Sider (fra-til) | 256-64 |
Antal sider | 9 |
ISSN | 0013-9580 |
DOI | |
Status | Udgivet - feb. 2013 |
ID: 47455383