A locus for juvenile myoclonic epilepsy maps to 2q33-q36

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dc.contributor.authorRatnapriya, R
dc.contributor.authorVijai, J
dc.contributor.authorKadandale, JS
dc.contributor.authorIyer, RS
dc.contributor.authorRadhakrishnan, K
dc.contributor.authorAnand, A
dc.date.accessioned2017-03-10T03:25:10Z
dc.date.available2017-03-10T03:25:10Z
dc.date.issued2010
dc.description.abstractWe 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.
dc.identifier.citation128 ,2;123-130en_US
dc.identifier.uri10.1007/s00439-010-0831-6
dc.identifier.urihttps://dspace.sctimst.ac.in/handle/123456789/9174
dc.publisherHUMAN GENETICS
dc.subjectGenetics & Heredity
dc.titleA locus for juvenile myoclonic epilepsy maps to 2q33-q36
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