ArticleHuman genetics2010
A locus for juvenile myoclonic epilepsy maps to 2q33-q36.
Article in Human genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
8 citing papers in PubMed.
- Reduced hippocampal inhibition and enhanced autism-epilepsy comorbidity in mice lacking neuropilin 2.Translational psychiatry · 2021Article
- Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry.Epilepsia · 2015Article
- Epilepsy: Indian perspective.Annals of Indian Academy of Neurology · 2014Article
- The sodium leak channel, NALCN, in health and disease.Frontiers in cellular neuroscience · 2014Review
- Prediction of gene-phenotype associations in humans, mice, and plants using phenologs.BMC bioinformatics · 2013Article
- Advances in epilepsy genetics and genomics.Epilepsy currents · 2012Article
- De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.American journal of human genetics · 2012Article
- Molecular Genetics of Epilepsy: A Clinician's Perspective.Annals of Indian Academy of NeurologyReview
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
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.
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Registered trials
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