Two new putative susceptibility loci for ADNFLE.
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) has been up to now considered a simple Mendelian trait caused by mutations in neuronal nicotinic acetylcholine receptor (nAChR) subunit genes. We previously demonstrated that in a three-generation Italian family the disease was unlinked to all known ADNFLE loci as well as to all known brain-expressed nAChR subunits. The genome-wide linkage analysis here presented performed on this family points to the existence of two new putative ADNFLE loci on chromosomes 3p22-p24 and 8q11.2-q21.1. These findings, together with several ADNFLE characteristics, suggest that this epilepsy could be, at least in the above family, a complex disorder. In particular, we propose and discuss the hypothesis of a digenic transmission of the disease.
Combi
Romina
R
Department of Biology and Genetics for Medical Sciences, University of Milano, Italy.
Ferini-Strambi
Luigi
L
Montruccoli
Arianna
A
Bianchi
Vera
V
Malcovati
Massimo
M
Zucconi
Marco
M
Dalprà
Leda
L
Tenchini
Maria Luisa
ML
D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3; D002898:Chromosomes, Human, Pair 8; D004198:Disease Susceptibility; D017034:Epilepsy, Frontal Lobe / Q000235:genetics*; D005192:Family Health; D005260:Female; D005799:Genes, Dominant; D020022:Genetic Predisposition to Disease; D023281:Genomics / Q000379:methods; D006801:Humans; D008297:Male