Epilepsy with auditory features:: A LGI1 gene mutation suggests a loss-of function mechanism
Epilepsy with auditory features:: A LGI1 gene mutation suggests a loss-of function mechanism
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DOI：
10.1002/ana.10492
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发表时间：
2003-03-01
影响因子：
11.2
通讯作者：
Giallonardo, AT
中科院分区：
文献类型：
--
作者：
Pizzuti, A;Flex, E;Giallonardo, AT
常染色体显性部分性癫痫伴听觉特征（ADPEAF）是一种遗传异质性疾病。一些患者表现出富含亮氨酸的胶质瘤失活（LGI1）基因突变。在ADPEAF家族中，预测Lgil信号肽中的新突变会干扰蛋白质细胞分选，导致加工改变。这一发现表明LGI1基因突变导致ADPEAF的功能丧失机制，即使不能排除其他机制。
Autosomal dominant partial epilepsy with auditory features (ADPEAF) is a genetically heterogeneous disorder. Some patients exhibit mutations in the leucine-rich glioma inactivated (LGI1) gene. In an ADPEAF family, a novel mutation in the Lgil signal peptide is predicted to interfere with the protein cell sorting, resulting in altered processing. This finding suggests a loss-of-function mechanism for LGI1 gene mutations causing ADPEAF even if other mechanisms cannot be ruled out.