Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy
Research output: Contribution to journal › Journal article › Research › peer-review
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 language | English |
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Journal | Epilepsia |
Volume | 54 |
Issue number | 2 |
Pages (from-to) | 256-64 |
Number of pages | 9 |
ISSN | 0013-9580 |
DOIs | |
Publication status | Published - Feb 2013 |
- 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
Research areas
ID: 47455383