期刊
EPILEPSY RESEARCH
卷 85, 期 1, 页码 118-122出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.eplepsyres.2009.02.007
关键词
Autosomal dominant lateral temporal epilepsy (ADLTE); LGI1; Epitempin; Mutation; Genetics
资金
- Fondation IDEE
Mutations in LGI1 have been reported in several families with autosomal dominant lateral temporal epilepsy. In a family in which three patients also experienced migraine-like episodes we found a novel three base-pair deletion (c.377_379delACA), resulting in the deletion of an asparagine residue in the second leucine-rich repeat. Functional studies showed that the mutated protein was not secreted when transfected in COS cells, consistent with a causative role in the disease. (C) 2009 Elsevier B.V. All rights reserved.
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