ArrayExpress Uploaderarrayexpress_sidhuman18 YearsCLN3 1kb Deletion (c.462-677del)Average Clinical CoursefemaleCLN3CLN3 1kb Deletion (c.462-677del), Female, 18 Years10 YearsCLN3 1kb Deletion (c.462-677del)Average Clinical CoursemaleCLN3CLN3 1kb Deletion (c.462-677del), Male, 10 Years9 YearsCLN3 1kb Deletion (c.462-677del)Average Clinical CoursefemaleCLN3CLN3 1kb Deletion (c.462-677del), Female, 9 Years12 YearsCLN3 1kb Deletion (c.462-677del)Average Clinical CoursemaleCLN3CLN3 1kb Deletion (c.462-677del), Male, 12 Years12 YearsCLN3 1kb Deletion (c.462-677del)Rapid Clinical CoursefemaleCLN3CLN3 1kb Deletion (c.462-677del), Female, 12 Years12 YearsCLN3 1kb Deletion (c.462-677del)Rapid Clinical CoursefemaleCLN3CLN3 1kb Deletion (c.462-677del), Female, 12 Years28 YearsCLN3 1kb Deletion (c.462-677del)Slow Clinical CoursemaleCLN3CLN3 1kb Deletion (c.462-677del), Male, 28 Years29 YearsCLN3 1kb Deletion (c.462-677del)Slow Clinical CoursemaleCLN3CLN3 1kb Deletion (c.462-677del), Male, 29 Years18 Yearscontrolnot specifiedfemalehealthyhealthy, Female, 18 Years10 Yearscontrolnot specifiedmalehealthyhealthy, Male, 10 Years10 Yearscontrolnot specifiedfemalehealthyhealthy, Female, 10 Years12 Yearscontrolnot specifiedfemalehealthyhealthy, Female, 12 Years27 Yearscontrolnot specifiedmalehealthyhealthy, Male, 27 Years29 Yearscontrolnot specifiedmalehealthyhealthy, Male, 29 Years13 Yearscontrolnot specifiedmalehealthyhealthy, Male, 13 Years368704Mutations in the CLN3 gene lead to juvenile neuronal ceroid lipofuscinosis, a pediatric neurodegenerative disorder characterized by...E-GEOD-22225/profile/8773/arrayexpressuploader615diseaseepilepsygenomejuvenile neuronal ceroid lipofuscinosisneuronal ceroid lipofuscinosisDec.12, 2014FalseE-GEOD-22225_A-AFFY-44cln3-patients-with-differing-progression-of-the-diCLN3 patients with differing progression of the diseaseSep.15, 2014Mutations in the CLN3 gene lead to juvenile neuronal ceroid lipofuscinosis, a pediatric neurodegenerative disorder characterized by visual loss, epilepsy and psychomotor deterioration. Although most CLN3 patients carry the same 1 kb deletion in the CLN3 gene, their disease phenotype can be variable. The aims of this study were (1) to identify genes that are dysregulated in CLN3 disease regardless of the clinical course that could be useful as biomarkers, and (2) to find modifier genes that affect the progression rate of the disease. Genome-wide expression profiling was performed in 8 CLN3 patients, homozygous for the 1 kb deletion, with different disease progression and compared to seven age and gender matched controls. Lymphocytes from eight patients diagnosed with CLN3 disease,all homozygous for the 1 kb deletion in the CLN3 gene and classified as having rapid (n = 2), average (n=4), and slow disease progression (n = 2), were used. These eight patients did not receive anticonvulsive medication. In addition, lymphocytes of seven age and gender matched controls were included in the study. Lymphocytes were prepared from fresh patient blood samples by Ficoll-gradient centrifugation (Biocoll®, Biochrom AG, Berlin, Germany) according to the manufacturer’s protocol and used for RNA isolation (RNeasy® Micro Kit, Qiagen, Hilden, Germany).http://www.ebi.ac.uk/arrayexpress/experiments/E-GEOD-22225http://www.ebi.ac.uk/arrayexpress/experiments/E-GEOD-22225/samples/