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A Novel Loss-of-Function LGI1 Mutation Linked to Autosomal Dominant Lateral Temporal Epilepsy
Pasquale Striano, MD;
Arturo de Falco, MD;
Erica Diani, BSc;
Giorgia Bovo, BSc;
Sandra Furlan;
Libero Vitiello, PhD;
Federica Pinardi, MD;
Salvatore Striano, MD;
Roberto Michelucci, MD;
Fabrizio Antonio de Falco, MD;
Carlo Nobile, PhD
Arch Neurol. 2008;65(7):939-942.
Background Mutations responsible for autosomal dominant lateral temporal epilepsy have been found in the leucine-rich, glioma-inactivated 1 (LGI1) gene.
Objectives To describe the clinical and genetic findings in a family with autosomal dominant lateral temporal epilepsy and to determine the functional effects of a novel LGI1 mutation in culture cells.
Design Clinical, genetic, and functional investigations.
Setting University hospital and laboratory.
Patients An Italian family with autosomal dominant lateral temporal epilepsy.
Main Outcome Measure Mutation analysis.
Results A novel LGI1 mutation, c.365T>A (Ile122Lys), segregating with the disease was identified. The mutant Lgi1 protein was not secreted by culture cells.
Conclusion Our data provide further evidence that mutations in LGI1 hamper secretion of the Lgi1 protein, thereby precluding its normal function.
Author Affiliations: Muscular and Neurodegenerative Diseases Unit, Institute "G. Gaslini," University of Genoa, Genoa, Italy (Dr P. Striano); Department of Neurological Sciences, Epilepsy Center, Federico II University (Drs P. Striano and S. Striano) and Division of Neurology, Loreto Nuovo Hospital (Drs A. de Falco and F. A. de Falco), Napoli, Italy; CNR Institute of Neurosciences, Section of Padova (Mss Diani, Bovo, and Furlan and Dr Nobile) and Department of Biology, University of Padova (Dr Vitiello), Padova, Italy; and Department of Neurosciences, Ospedale Bellaria, Bologna, Italy (Drs Pinardi and Michelucci).
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