Rigon Laura, Vettori Andrea, Busolin Giorgia, Egeo Gabriella, Pulitano Patrizia, Santulli Lia, Pasini Elena, Striano Pasquale, la Neve Angela, Vianello Dri Valeria, Boniver Clementina, Gambardella Antonio, Banfi Paola, Binelli Simona, Di Bonaventura Carlo, Striano Salvatore, de Falco Fabrizio, Giallonardo Anna T, Mecarelli Oriano, Michelucci Roberto, Nobile Carlo
CNR-Institute of Neurosciences, Section of Padua, Department of Experimental Biomedical Sciences, University of Padua, viale G. Colombo 3, 35121 Padova, Italy.
Epilepsy Res Treat. 2011;2011:258365. doi: 10.1155/2011/258365. Epub 2010 Dec 21.
Autosomal dominant lateral temporal epilepsy (ADTLE) is an inherited epileptic syndrome characterized by ictal auditory symptoms or aphasia, negative MRI findings, and relatively benign evolution. Mutations responsible for ADLTE have been found in the LGI1 gene. The functions of the Lgi1 protein apparently are mediated by interactions with members of the ADAM protein family: it binds the postsynaptic receptor ADAM22 to regulate glutamate-AMPA currents at excitatory synapses and also the ADAM23 receptor to promote neurite outgrowth in vitro and dendritic arborization in vivo. Because alteration of each of these neuronal mechanisms may underlie ADLTE, ADAM22 and ADAM23 are candidate genes for this syndrome. In a previous work, we excluded a major role of ADAM22 in the aetiology of ADLTE. Here, we performed linkage analysis between microsatellite markers within or flanking the ADAM23 gene and ADLTE in 13 Italian families. The results exclude ADAM23 as major causative gene for ADLTE.
常染色体显性遗传性外侧颞叶癫痫（ADTLE）是一种遗传性癫痫综合征，其特征为发作期听觉症状或失语、MRI检查结果阴性以及病情进展相对良性。已在LGI1基因中发现了导致ADLTE的突变。Lgi1蛋白的功能显然是通过与ADAM蛋白家族成员的相互作用来介导的：它与突触后受体ADAM22结合，以调节兴奋性突触处的谷氨酸 - AMPA电流，还与ADAM23受体结合，以促进体外神经突生长和体内树突分支。由于这些神经元机制中的每一个改变都可能是ADLTE的基础，因此ADAM22和ADAM23是该综合征的候选基因。在先前的研究中，我们排除了ADAM22在ADLTE病因学中的主要作用。在此，我们对13个意大利家庭中ADAM23基因内部或侧翼的微卫星标记与ADLTE进行了连锁分析。结果排除了ADAM23作为ADLTE主要致病基因的可能性。
