Abstract

The epilepsies comprise a common and devastating collection of disorders that affect about 1% of the U.S. population. This study is aimed at identifying one or more mutant genes that predispose individuals to juvenile myoclonic epilepsy and related forms of idiopathic generalized epilepsies. Large pedigrees continue to be identified throughout India in which there are at least four affected persons. Detailed history, neurological examination and EEG are being obtained and DNA isolated to perform a genomic screen for linkage/association analysis. Both model-based likelihood analyses and model-free analyses have been performed on the first pedigree in order to better define the disease as a genetic entity and to determine chromosomal locations of the genes involved. So far three chromosomal locations have been tentatively identified as suggestive of linkage. Further pedigrees are bing identified in order to confirm one or more of these findings. ?

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
Biotechnology Resource Grants (P41)
Project #
5P41RR003655-16
Application #
6491950
Study Section
Project Start
2001-09-01
Project End
2002-08-31
Budget Start
Budget End
Support Year
16
Fiscal Year
2001
Total Cost
$294,555
Indirect Cost

  Institution

Name
Case Western Reserve University
Department
Type
DUNS #
077758407
City
Cleveland
State
OH
Country
United States
Zip Code
44106

  Publications

Elston, Robert C; Satagopan, Jaya; Sun, Shuying (2017) Statistical Genetic Terminology. Methods Mol Biol 1666:1-9
Thota, Prashanthi N; Zackria, Shamiq; Sanaka, Madhusudhan R et al. (2017) Racial Disparity in the Sex Distribution, the Prevalence, and the Incidence of Dysplasia in Barrett's Esophagus. J Clin Gastroenterol 51:402-406
Liang, Jingjing; Cade, Brian E; Wang, Heming et al. (2016) Comparison of Heritability Estimation and Linkage Analysis for Multiple Traits Using Principal Component Analyses. Genet Epidemiol 40:222-32
Wang, Chuchu; Wu, Manman; Qian, Jin et al. (2016) Identification of rare variants in TNNI3 with atrial fibrillation in a Chinese GeneID population. Mol Genet Genomics 291:79-92
Lemas, Dominick J; Klimentidis, Yann C; Aslibekyan, Stella et al. (2016) Polymorphisms in stearoyl coa desaturase and sterol regulatory element binding protein interact with N-3 polyunsaturated fatty acid intake to modify associations with anthropometric variables and metabolic phenotypes in Yup'ik people. Mol Nutr Food Res 60:2642-2653
Day, Kenneth; Waite, Lindsay L; Alonso, Arnald et al. (2016) Heritable DNA Methylation in CD4+ Cells among Complex Families Displays Genetic and Non-Genetic Effects. PLoS One 11:e0165488
Justice, Cristina M; Bishop, Kevin; Carrington, Blake et al. (2016) Evaluation of IRX Genes and Conserved Noncoding Elements in a Region on 5p13.3 Linked to Families with Familial Idiopathic Scoliosis and Kyphosis. G3 (Bethesda) 6:1707-12
Petrovic, Dusan; Pivin, Edward; Ponte, Belen et al. (2016) Sociodemographic, behavioral and genetic determinants of allostatic load in a Swiss population-based study. Psychoneuroendocrinology 67:76-85
Castiblanco, John; Sarmiento-Monroy, Juan Camilo; Mantilla, Ruben Dario et al. (2015) Familial Aggregation and Segregation Analysis in Families Presenting Autoimmunity, Polyautoimmunity, and Multiple Autoimmune Syndrome. J Immunol Res 2015:572353
Shetty, Priya B; Tang, Hua; Feng, Tao et al. (2015) Variants for HDL-C, LDL-C, and triglycerides identified from admixture mapping and fine-mapping analysis in African American families. Circ Cardiovasc Genet 8:106-13

Showing the most recent 10 out of 922 publications