Striano Pasquale, de Falco Arturo, Diani Erica, Bovo Giorgia, Furlan Sandra, Vitiello Libero, Pinardi Federica, Striano Salvatore, Michelucci Roberto, de Falco Fabrizio Antonio, Nobile Carlo
Muscular and Neurodegenerative Diseases Unit, Institute G. Gaslini, University of Genoa, Genoa, Italy.
Arch Neurol. 2008 Jul;65(7):939-42. doi: 10.1001/archneur.65.7.939.
Mutations responsible for autosomal dominant lateral temporal epilepsy have been found in the leucine-rich, glioma-inactivated 1 (LGI1) gene.
To describe the clinical and genetic findings in a family with autosomal dominant lateral temporal epilepsy and to determine the functional effects of a novel LGI1 mutation in culture cells.
Clinical, genetic, and functional investigations.
University hospital and laboratory.
An Italian family with autosomal dominant lateral temporal epilepsy.
Mutation analysis.
A novel LGI1 mutation, c.365T>A (Ile122Lys), segregating with the disease was identified. The mutant Lgi1 protein was not secreted by culture cells.
Our data provide further evidence that mutations in LGI1 hamper secretion of the Lgi1 protein, thereby precluding its normal function.
在富含亮氨酸的胶质瘤失活1（LGI1）基因中发现了导致常染色体显性遗传性外侧颞叶癫痫的突变。
描述一个常染色体显性遗传性外侧颞叶癫痫家系的临床和遗传学发现，并确定一种新的LGI1突变在培养细胞中的功能影响。
临床、遗传学和功能研究。
大学医院和实验室。
一个患有常染色体显性遗传性外侧颞叶癫痫的意大利家系。
突变分析。
鉴定出一个与疾病共分离的新的LGI1突变，c.365T>A（Ile122Lys）。突变的Lgi1蛋白未被培养细胞分泌。
我们的数据进一步证明，LGI1突变会阻碍Lgi1蛋白的分泌，从而使其无法发挥正常功能。
