id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_bu7yysz2ija7jkgmwurb73w46y	J I Friedman	CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy	2007.0	6	.pdf	application/pdf	4510	385	54	CNTNAP2 gene dosage variation is associated with A homozygous mutation of the CNTNAP2 gene has been associated with a syndrome of focal in haploinsufficiency of the CNTNAP2 gene in association with epilepsy and schizophrenia. Genomic deletions of varying sizes affecting the CNTNAP2 gene were identified in three nonrelated Caucasian patients. gene may lead to a complex phenotype of schizophrenia, epilepsy and cognitive impairment. Keywords: epilepsy; schizophrenia; CNTNAP2; copy number variation We identified a hemizygous deletion involving chromosome region 7q34–7q36.1 in patient 1 by routine We identified a second hemizygous deletion involving CNTNAP2 in patient 2 by tiling-resolution array Figure 1 Genomic deletions of the CNTNAP2 locus in chromosome 7 in three patients. (b) MLPA confirmation of the deletions in CNTNAP2 in all three patients. Sequence analysis of all 24 exons of the CNTNAP2 gene dosage variation of the CNTNAP2 gene and epilepsy CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy	./cache/work_bu7yysz2ija7jkgmwurb73w46y.pdf	./txt/work_bu7yysz2ija7jkgmwurb73w46y.txt