Associated Papers
Phenotypic spectrum of NRXN1 mono- and bi-allelic deficiency: A systematic review.
Castronovo P et al.
Clinical Genetics, 2020
Mutations in NRXN1 and NRXN2 in a patient with early-onset epileptic encephalopathy and respiratory depression.
Rochtus AM et al.
Cold Spring Harbor Molecular Case Studies, 2019
Fraternal twins with autism, severe cognitive deficit, and epilepsy: diagnostic role of chromosomal microarray analysis.
Imitola J et al.
Seminars in Pediatric Neurology, 2014
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature.
Béna F et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2013
Evidence of novel fine-scale structural variation at autism spectrum disorder candidate loci.
Hedges DJ et al.
Molecular Autism, 2012
Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities.
Zoghbi HY et al.
Cold Spring Harbor Perspectives in Biology, 2012
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1.
Gregor A et al.
Bmc Medical Genetics, 2011
CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila.
Zweier C et al.
American Journal of Human Genetics, 2009
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