Please use this identifier to cite or link to this item: http://dspace.sctimst.ac.in/jspui/handle/123456789/9174
Title: A locus for juvenile myoclonic epilepsy maps to 2q33-q36
Authors: Ratnapriya, R
Vijai, J
Kadandale, JS
Iyer, RS
Radhakrishnan, K
Anand, A
Keywords: Genetics & Heredity
Issue Date: 2010
Publisher: HUMAN GENETICS
Citation: 128 ,2;123-130
Abstract: We performed a whole genome linkage analysis in a three-generation south Indian family with multiple members affected with juvenile myoclonic epilepsy (JME). The maximum two-point LOD score obtained was 3.32 at recombination fraction (theta) = 0 for D2S2248. The highest multipoint score of 3.59 was observed for the genomic interval between D2S2322 and D2S2228 at the chromosomal region 2q33-q36. Proximal and distal boundaries of the critical genetic interval were defined by D2S116 and D2S2390, respectively. A 24-Mb haplotype was found to co-segregate with JME in the family. While any potentially causative variant in the functional candidate genes, SLC4A3, SLC23A3, SLC11A1 and KCNE4, was not detected, we propose to examine brain-expressed NRP2, MAP2, PAX3, GPR1, TNS1 and DNPEP, and other such positional candidate genes to identify the disease-causing gene for the disorder.
URI: 10.1007/s00439-010-0831-6
http://dspace.sctimst.ac.in/jspui/handle/123456789/9174
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