Publications by authors named "B Moulard"
Purpose: To reevaluate the genetic contribution of the polymorphism G1465A of the gene coding for gamma-aminobutyric acid (GABA)(B) receptor 1 subunit [GABA(B)(1)] in a sample of French patients with temporal lobe epilepsy (TLE) and to perform an exploratory analysis in other phenotypic subgroups.
Methods: The 134 patients were genotyped for the polymorphism G1465A. This sample was divided in two groups.
Purpose: Unverricht-Lundborg disease (ULD) is the most frequent form of progressive myoclonus epilepsy. ULD is caused mostly by a homozygous expansion of a dodecamer repeat in the cystatin B gene (CSTB) promoter. We present here a clinical and molecular study of 14 ULD patients originating from Reunion Island, a French island in the Indian Ocean.
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- Unverricht-Lundborg disease (ULD) is a progressive myoclonus epilepsy primarily affecting populations in Finland and North Africa, linked to a repeat expansion in the CSTB gene.
- A study analyzing 95 ULD chromosomes identified a founder effect in North African patients who predominantly shared a specific haplotype (A1), while West European Caucasians showed greater genetic diversity.
- The research suggests that a common ancestor for these haplotypes may have existed around 2,500 years ago, indicating there are only a few founder mutations responsible for ULD.
Rapidly advancing knowledge concerning the genetic aspects of epilepsy have led us to complete a recent article on the subject published in the journal. A contrasting picture is emerging, particularly between symptomatic and idiopathic epilepsy. For symptomatic epilepsy, divers gene products implicated in brain development and neuron survival have been identified.
View Article and Find Full Text PDFThe discovery of genetically transmissible form of epilepsy associated with a mutation in a gene that codes for a subunit of a ligand-gated channel shined a new light in this field of neurological diseases. Because this gene (CHRNA4) codes for a neuronal nicotinic acetylcholine receptor subunit, functional studies could be designed to evaluate the alterations caused by this mutation. Since this initial observation, five mutations were identified and determination of their functional properties initiated.
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