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Article
Neurobiology of suicide: do biomarkers exist?
Clinical risk factors have a low predictive value on suicide. This may explain the increasing interest in potential neurobiological correlates and specific heritable markers of suicide vulnerability. This revi...
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Article
Open AccessA new locus on chromosome 22q13.31 linked to recessive genetic epilepsy with febrile seizures plus (GEFS+) in a Tunisian consanguineous family
Genetic epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome with extremely variable expressivity. The aim of our study was to identify the responsible locus for GEFS+ syndrome in a cons...
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Article
BRD2 and TAP-1 genes and juvenile myoclonic epilepsy
Juvenile myoclonic epilepsy (JME) is a genetically determined common subtype of idiopathic generalized epilepsy. Linkage of JME to the chromosomal region 6p21.3 has been reported. An association has been previ...
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Article
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
Thomas Sander and colleagues identify 15q13.3 microdeletions in 1% of individuals with idiopathic generalized epilepsy (IGE). The majority of these individuals do not show intellectual disability, schizophreni...
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Article
Candidate genes for temporal lobe epilepsy: a replication study
The objective of this study is to replicate previously published results regarding the involvement of several susceptibility genes in temporal lobe epilepsy (TLE): interleukin 1β (IL-1β), interleukin 1β (IL-1α),
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Article
Collecting Saliva by Mail for Genetic and Cotinine Analyses in Participants Recruited through the Internet
The authors assessed whether collection by mail of saliva and buccal cells for genetic analysis was feasible in participants recruited through the Internet. In 2003, 14,773 visitors of a smoking cessation webs...
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Article
Monoamine Oxidase A and Tryptophan Hydroxylase Gene Polymorphisms
Most of the candidate gene studies in bipolar disorder have focused on the major neurotransmitter systems that are influenced by drugs used in the treatment of this disorder. The monoamine oxidase A (MAOA) and th...
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Article
Open AccessCombined analysis of data from two granddaughter designs: A simple strategy for QTL confirmation and increasing experimental power in dairy cattle
A joint analysis of five paternal half-sib Holstein families that were part of two different granddaughter designs (ADR- or Inra-design) was carried out for five milk production traits and somatic cell score i...
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Article
Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations
Unverricht-Lundborg disease (ULD) is a progressive myoclonus epilepsy common in Finland and North Africa, and less common in Western Europe. ULD is mostly caused by expansion of a dodecamer repeat in the cyst...
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Article
Magnesium Involvement in Sleep: Genetic and Nutritional Models
Alterations of peripheral magnesium (Mg) concentration have been reported in association with several behavioral disorders and sleep organization. Blood Mg regulation is under a strong genetic control, whereas...
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Article
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2
Generalized epilepsy with febrile seizures plus type 2 (GEFS+2, MIM 604233) is an autosomal dominant disorder characterized by febrile seizures in children and afebrile seizures in adults. We describe here two...
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Article
Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy
Progressive myoclonus epilepsy of the Unverricht–Lundborg type (EPM1; MIM 254800) is an autosomal recessive disorder with onset between 6 and 13 years followed by variable progression to mental deterioration a...
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Article
Confirmation of linkage of benign familial neonatal convulsions to D20S19 and D20S20
Benign familial neonatal convulsions (BFNC) is an idiopathic form of epilepsy beginning within the first six months of life. Its genetic origin and autosomal dominant mode of inheritance have been suspected si...
