Thomas N Ferraro — Page 2

PubMedDate not supplied

Lack of association between variations in the brain-derived neurotrophic factor (BDNF) gene and temporal lobe epilepsy.

Recently, an association between the C240T polymorphism in the brain-derived neurotrophic factor (BDNF) gene and partial epilepsy was demonstrated in a Japanese population. In this study we attempted to replicate the initial finding in a patient-control population of European ancestry and in addition tested whether the functional Val66Met polymorphism is associated with temporal lobe epilepsy (TLE). Genotypes of 151 TLE patients and 189 controls did not differ significantly for either of the variations. Results suggest that neither of the studied polymorphisms are strong susceptibility factors for TLE in this sample of individuals of European ancestry.

Adult↗

PubMedDate not supplied

No association between common variations in the human alpha 2 subunit gene (ATP1A2) of the sodium-potassium-transporting ATPase and idiopathic generalized epilepsy.

Quantitative trait loci studies in inbred mice have identified a locus on chromosome 1 (Szs1) of fundamental importance to seizure susceptibility. High-ranking candidate genes in this susceptibility region include KCNJ9, KCNJ10 and ATP1A2. We performed a systematic mutation scan of the coding region of the human ATP1A2 gene and performed a case-control association study with seven common markers. Genotypes were assessed in 152 idiopathic generalized epilepsy (IGE) patients of German ancestry and 111 healthy German controls for all seven polymorphisms. No significant differences were found in genotype or allele frequencies for any of the variations between the IGE patients and controls. No haplotypes were associated with IGE when compared to controls. Linkage disequilibrium was demonstrated throughout the gene. Results suggest that the polymorphisms we studied in the ATP1A2 gene do not represent major susceptibility factors for common forms of IGE.

DNA↗