Two new putative susceptibility loci for ADNFLE.

Romina Combi; Luigi Ferini-Strambi; Arianna Montruccoli; Vera Bianchi; Massimo Malcovati; Marco Zucconi; Leda Dalprà; Maria Luisa Tenchini

doi:10.1016/j.brainresbull.2005.06.032

PubMed · 16182932

Two new putative susceptibility loci for ADNFLE.

Romina Combi·Luigi Ferini-Strambi·Arianna Montruccoli·Vera Bianchi·Massimo Malcovati·Marco Zucconi·Leda Dalprà·Maria Luisa Tenchini

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Abstract

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.

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Chromosome Mapping Chromosomes, Human, Pair 3 Chromosomes, Human, Pair 8 Disease Susceptibility Epilepsy, Frontal Lobe Family Health Female Genes, Dominant Genetic Predisposition to Disease Genomics Humans Male Comparative Study Journal Article

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Romina Combi, Luigi Ferini-Strambi, Arianna Montruccoli, Vera Bianchi, Massimo Malcovati, Marco Zucconi, Leda Dalprà, Maria Luisa Tenchini. 2005-10-30. Two new putative susceptibility loci for ADNFLE.. https://doi.org/10.1016/j.brainresbull.2005.06.032

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