Two new putative susceptibility loci for ADNFLE

被引：16

作者：

Combi, R

Ferini-Strambi, L

Montruccoli, A

Bianchi, V

Malcovati, M

Zucconi, M

Dalprà, L

Tenchini, ML

机构：

[1] Ist Sci San Raffaele, Sleep Disorders Ctr, I-20127 Milan, Italy

[2] Univ Milan, Dept Biol & Genet Med Sci, I-20133 Milan, Italy

[3] Univ Milan, Dept Expt Environm Med & Med Biotechnol, I-20052 Monza, Italy

来源：

BRAIN RESEARCH BULLETIN | 2005年 / 67卷 / 04期

关键词：

epilepsy; linkage; sleep disorder; digenic transmission;

D O I：

10.1016/j.brainresbull.2005.06.032

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

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. (c) 2005 Elsevier Inc. All rights reserved.

引用

收藏

页码：257 / 263

页数：7

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