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  • Title: A novel three base-pair LGI1 deletion leading to loss of function in a family with autosomal dominant lateral temporal epilepsy and migraine-like episodes.
    Author: de Bellescize J, Boutry N, Chabrol E, André-Obadia N, Arzimanoglou A, Leguern E, Baulac S, Calender A, Ryvlin P, Lesca G.
    Journal: Epilepsy Res; 2009 Jul; 85(1):118-22. PubMed ID: 19268539.
    Abstract:
    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.
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