ArticleHuman genetics2008
A novel genetic locus for familial febrile seizures and epilepsy on chromosome 3q26.2-q26.33.
Article in Human genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 26 citations in OpenAlex.
- Fever-Associated Seizures or Epilepsy: An Overview of Old and Recent Literature Acquisitions.Frontiers in pediatrics · 2022Review
- Identification of MissenseChildren (Basel, Switzerland) · 2020Article
- p.His16Arg of STXBP1 (MUNC18-1) Associated With Syntaxin 3B Causes Autosomal Dominant Congenital Nystagmus.Frontiers in cell and developmental biology · 2020Article
- Genetic and epigenetic mechanisms of epilepsy: a review.Neuropsychiatric disease and treatment · 2017Review
- A new locus on chromosome 22q13.31 linked to recessive genetic epilepsy with febrile seizures plus (GEFS+) in a Tunisian consanguineous family.BMC genetics · 2013Article
- Epilepsy genetics--past, present, and future.Current opinion in genetics & development · 2011Review
- Evaluation of candidate genes from orphan FEB and GEFS+ loci by analysis of human brain gene expression atlases.PloS one · 2011Article
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Febrile seizures (FS) are common in children, and the incidence is 2-5% before the age of 5 years. A four-generation Chinese family with autosomal dominant febrile seizure and epilepsy was studied by genome-wide linkage analysis. Significant linkage was identified with markers on chromosome 3q26.2-26.33 with a maximum pairwise LOD score of >3.00. Fine mapping defined the new genetic locus within a 10.7-Mb region between markers D3S3656 and D3S1232. A maximum multipoint LOD score of 5.27 was detected at marker D3S1565. A previously reported CLCN2 gene for epilepsy was excluded as the disease-causing gene in the family by mutational analysis of all exons and exon-intron boundaries of CLCN2 and by haplotype analysis. Mutation analysis of KCNMB2 and KCNMB3, which were two potassium-channel genes in this linkage region, did not reveal a disease causing mutation. Our results identified another novel locus on chromosome 3q26.2-26.33, and future studies of the candidate genes at the locus will identify a new gene for combined FS and idiopathic epilepsies.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.