id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_rdyppa4isra3dorthbk5454hem	Jose M Belloso	Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome	2007.0	3	.pdf	application/pdf	1802	155	51	1Department of Cellular and Molecular Medicine, Wilhelm Johannsen Centre for Functional Genome Research, Caspr2 protein has been suggested to be associated with the Gilles de la Tourette syndrome, a we describe a familial balanced reciprocal translocation t(7;15)(q35;q26.1) in phenotypically normal The 7q35 breakpoint disrupts the CNTNAP2 gene, indicating that truncation of this gene does Keywords: Caspr2; chromosome 7; CNTNAP2; cortical dysplasia-focal epilepsy syndrome; Gilles de la Tourette la Tourette syndrome (GTS, OMIM 137580).6 CDFE is breakpoint disrupts the CNTNAP2 gene, but the translocation carriers do not present clinical features of GTS. Figure 1b) was detected through a systematic re-examination of balanced reciprocal translocation carriers in Denmark.11 The family history revealed that the translocation breakpoints truncating the CNTNAP2 gene. the present translocation family indicates that disruption disrupted in a family with Gilles de la Tourette syndrome and Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome	./cache/work_rdyppa4isra3dorthbk5454hem.pdf	./txt/work_rdyppa4isra3dorthbk5454hem.txt