Article
Two new putative susceptibility loci for ADNFLE.
Brain research bulletin - 30 Oct 2005
Combi Romina, Ferini-Strambi Luigi, Montruccoli Arianna, Bianchi Vera, Malcovati Massimo, Zucconi Marco, Dalprà Leda, Tenchini Maria Luisa
Abstract excerpt
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...
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