title: A locus for juvenile myoclonic epilepsy maps to 2q33-q36.
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.
authors.affiliation: Molecular Biology and Genetics Unit, Jawaharlal Nehru Centre for Advanced Scientific Research, Bangalore, 560 064, India.
authors.forename: Rinki
authors.initials: R
authors.lastname: Ratnapriya
authors.forename: Joseph
authors.initials: J
authors.lastname: Vijai
authors.forename: Jayaram S
authors.initials: JS
authors.lastname: Kadandale
authors.forename: Rajesh S
authors.initials: RS
authors.lastname: Iyer
authors.forename: Kurupath
authors.initials: K
authors.lastname: Radhakrishnan
authors.forename: Anuranjan
authors.initials: A
authors.lastname: Anand
mesh_terms: D001921:Brain / Q000503:physiopathology; D027682:Cation Transport Proteins; D005796:Genes; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D008126:Lod Score; D020190:Myoclonic Epilepsy, Juvenile / Q000235:genetics* / Q000503:physiopathology; D000099173:Natural Resistance-associated Macrophage Protein 1
chemical_list: D027682:Cation Transport Proteins; D000099173:Natural Resistance-associated Macrophage Protein 1
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