A novel three base-pair LGI1

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• 作者：Julitta de Bellescize ; Nadia Boutry ; Elodie Chabrol ; Nathalie André ; -Obadia ; Alexis Arzimanoglou ; Eric Leguern ; Sté ; phanie Baulac ; Alain Calender ; Philippe Ryvlin ; Gaetan Lesca
• 关键词：Autosomal dominant lateral temporal epilepsy (ADLTE) ; LGI1 ; Epitempin ; Mutation ; Genetics
• 刊名：Epilepsy Research
• 出版年：2009
• 出版时间：July 2009
• 年：2009
• 卷：85
• 期：1
• 页码：118-122
• 全文大小：537 K

文摘

Summary

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.