ArticleAmerican journal of human genetics1999
A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33.
Article in American journal of human genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 207 citations in OpenAlex.
- Best practices for the management of febrile seizures in children.Italian journal of pediatrics · 2024Review
- AnFrontiers in neurology · 2023Article
- Assessment of burden and segregation profiles of CNVs in patients with epilepsy.Annals of clinical and translational neurology · 2022Article
- Article
- The Broad Clinical Spectrum of Epilepsies Associated With Protocadherin 19 Gene Mutation.Frontiers in neurology · 2021Review
- Phenotypic analysis of 303 multiplex families with common epilepsies.Brain : a journal of neurology · 2017Article
- Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes.PloS one · 2017Article
- A roadmap for precision medicine in the epilepsies.The Lancet. Neurology · 2015Review
- Novel GABRG2 mutations cause familial febrile seizures.Neurology. Genetics · 2015Article
- Impaired action potential initiation in GABAergic interneurons causes hyperexcitable networks in an epileptic mouse model carrying a human Na(V)1.1 mutation.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2014Article
- Molecular identity of axonal sodium channels in human cortical pyramidal cells.Frontiers in cellular neuroscience · 2014Article
- 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
- Genetic variants and susceptibility to neurological complications following West Nile virus infection.The Journal of infectious diseases · 2011Article
- A locus for juvenile myoclonic epilepsy maps to 2q33-q36.Human genetics · 2010Article
- A missense mutation of the gene encoding voltage-dependent sodium channel (Nav1.1) confers susceptibility to febrile seizures in rats.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2010Article
- Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brain.Human genetics · 2009Review
- Article
- The role of interleukin-1beta in febrile seizures.Brain & development · 2009Review
- 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
- Sodium channel mutations in epilepsy and other neurological disorders.The Journal of clinical investigation · 2005Review
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report a clinical and genetic study of a family with a phenotype resembling generalized epilepsy with febrile seizures plus (GEFS+), described by Berkovic and colleagues. Patients express a very variable phenotype combining febrile seizures, generalized seizures often precipitated by fever at age >6 years, and partial seizures, with a variable degree of severity. Linkage analysis has excluded both the beta 1 subunit gene (SCN1B) of a voltage-gated sodium (Na+) channel responsible for GEFS+ and the two loci, FEB1 and FEB2, previously implicated in febrile seizures. A genomewide search, under the assumption of incomplete penetrance at 85% and a phenocopy rate of 5%, permitted identification of a new locus on chromosome 2q21-q33. The maximum pairwise LOD score was 3.00 at recombination fraction 0 for marker D2S2330. Haplotype reconstruction defined a large (22-cM) candidate interval flanked by markers D2S156 and D2S2314. Four genes coding for different isoforms of the alpha-subunit voltage-gated sodium channels (SCN1A, SCN2A1, SCN2A2, and SCN3A) located in this region are strong candidates for the disease gene.
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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.