TY - JOUR
T1 - A novel loss-of-function LGi1 mutation linked to autosomal dominant lateral temporal epilepsy
AU - Striano, Pasquale
AU - De Falco, Arturo
AU - Diani, Erica
AU - Bovo, Giorgia
AU - Furlan, Sandra
AU - Vitiello, Libero
AU - Pinardi, Federica
AU - Striano, Salvatore
AU - Michelucci, Roberto
AU - De Falco, Fabrizio Antonio
AU - Nobile, Carlo
PY - 2008/7
Y1 - 2008/7
N2 - 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.
AB - 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.
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U2 - 10.1001/archneur.65.7.939
DO - 10.1001/archneur.65.7.939
M3 - Article
C2 - 18625862
AN - SCOPUS:47549096259
VL - 65
SP - 939
EP - 942
JO - Archives of Neurology
JF - Archives of Neurology
SN - 0003-9942
IS - 7
ER -