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Two novel epilepsy-linked mutations leading to a loss of function of LGI1.

Abstract : BACKGROUND: Mutations in the leucine-rich, glioma-inactivated 1 (LGI1) gene have been implicated in autosomal dominant lateral temporal epilepsy. OBJECTIVE: To describe the clinical and genetic findings in 2 families with autosomal dominant lateral temporal epilepsy and the functional consequences of 2 novel mutations in LGI1. DESIGN: Clinical, genetic, and functional investigations. SETTING: University hospital. Patients Two French families with autosomal dominant lateral temporal epilepsy. Main Outcome Measure Mutation analysis. RESULTS: Two novel disease-linked mutations, p.Leu232Pro and c.431 + 1G>A, were identified in LGI1. We demonstrated that the c.431 + 1G>A mutation causes the deletion of exons 3 and 4 of the LGI1 transcript and showed that the p.Leu232Pro mutation dramatically decreases secretion of the mutant protein by mammalian cells. CONCLUSION: Our data indicate that LGI1 is a secreted protein and suggest that LGI1-related epilepsy results from a loss of function.
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https://www.hal.inserm.fr/inserm-00306475
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Submitted on : Saturday, July 26, 2008 - 11:23:13 AM
Last modification on : Wednesday, August 19, 2020 - 11:16:28 AM
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Elodie Chabrol, Cyprian Popescu, Isabelle Gourfinkel-An, Oriane Trouillard, Christel Depienne, et al.. Two novel epilepsy-linked mutations leading to a loss of function of LGI1.. Archives of Neurology -Chigago-, American Medical Association, 2007, 64 (2), pp.217-22. ⟨10.1001/archneur.64.2.217⟩. ⟨inserm-00306475⟩

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