ArticleJournal of medical genetics1996
Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21.
Article in Journal of medical genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed.
- Best practices for the management of febrile seizures in children.Italian journal of pediatrics · 2024Review
- Expanding the Phenotypic and Genotypic Spectrum ofFrontiers in molecular neuroscience · 2022Article
- Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Identification of MissenseChildren (Basel, Switzerland) · 2020Article
- Arfgef1 haploinsufficiency in mice alters neuronal endosome composition and decreases membrane surface postsynaptic GABANeurobiology of disease · 2020Article
- Clinical Features and Evaluation in Terms of Prophylaxis of Patients With Febrile Seizures.Sisli Etfal Hastanesi tip bulteni · 2019Article
- 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
- Lack of association between TNF-α gene polymorphisms at position -308 A, -850T and risk of simple febrile convulsion in pediatric patients.Advanced biomedical research · 2012Article
- 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
- The Role of Seizure-Related SEZ6 as a Susceptibility Gene in Febrile Seizures.Neurology research international · 2011Article
- Article
- A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.PLoS genetics · 2009Article
- A novel genetic locus for familial febrile seizures and epilepsy on chromosome 3q26.2-q26.33.Human genetics · 2008Article
- Genome-wide linkage of febrile seizures and epilepsy to the FEB4 locus at 5q14.3-q23.1 and no MASS1 mutation.Human genetics · 2006Article
- Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures.Proceedings of the National Academy of Sciences of the United States of America · 2005Article
- Febrile seizures: an update.Archives of disease in childhood · 2004Review
- Four new families with autosomal dominant partial epilepsy with auditory features: clinical description and linkage to chromosome 10q24.Epilepsia · 2002Article
- A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction.Proceedings of the National Academy of Sciences of the United States of America · 2001Article
- Genetics of inherited human epilepsies.Dialogues in clinical neuroscience · 2001Article
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Febrile convulsions affect 2 to 5% of all children under the age of 5 years. These convulsions probably have a variety of causes, but a genetic component has long been recognised. A large and remarkable family is described in which febrile convulsions appear to result from autosomal dominant inheritance at a single major locus. A gene for febrile convulsions was excluded from regions of previously mapped epilepsy genes and extension of exclusion mapping, using microsatellite markers, to the entire genome implied that a locus on chromosome 8q13-21 may be involved. Linkage analysis of markers on chromosome 8 gave a multipoint lod score of 3.40, maximised over different values of penetrance and phenocopy rate, for linkage between the gene for febrile convulsions and the region flanked by markers D8S553 and D8S279. This lod score was calculated assuming the disease has a penetrance of 60% and a phenocopy rate of 3%. Although there was no indication of linkage other than to markers on chromosome 8, linkage remains suggestive rather than significant because of the maximisation procedure applied. The support for linkage involving a major gene, as opposed to an alternative hypothesis of a complex inheritance pattern, relied upon the assumption of low penetrance.
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