LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures
LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures
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DOI：
10.1002/ana.10280
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发表时间：
2002-09-01
影响因子：
11.2
通讯作者：
Steinlein, OK
中科院分区：
文献类型：
--
作者：
Gu, WL;Brodtkorb, E;Steinlein, OK
常染色体显性遗传颞叶外侧癫痫与染色体10 q22-q24有关，最近在一些常染色体显性遗传颞叶外侧癫痫家系中发现LGI 1基因（Leucine-rich gene，Glioma Inactivated）突变。我们现在已经确定了一个错义突变，影响LGI 1蛋白胞外区的保守半胱氨酸残基。在一个挪威大家族中，C46 R突变与常染色体显性遗传侧颞叶癫痫相关，表现出不寻常的临床特征，如短暂的感觉性失语和听觉症状。
Autosomal dominant lateral temporal lobe epilepsy previously has been linked to chromosome 10q22-q24, and recently mutations in the LGI1 gene (Leucine-rich gene, Glioma Inactivated) have been found in some autosomal dominant lateral temporal lobe epilepsy families. We have now identified a missense mutation affecting a conserved cysteine residue in the extracellular region of the LGI1 protein. The C46R mutation is associated with autosomal dominant lateral temporal lobe epilepsy in a large Norwegian family showing unusual clinical features like short-lasting sensory aphasia and auditory symptoms.