A Novel Loss-of-Function LGI1 Mutation Linked to Autosomal Dominant Lateral Temporal Epilepsy (Articolo in rivista)

Type
Label
  • A Novel Loss-of-Function LGI1 Mutation Linked to Autosomal Dominant Lateral Temporal Epilepsy (Articolo in rivista) (literal)
Anno
  • 2008-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1001/archneur.65.7.939 (literal)
Alternative label
  • Striano P; de Falco A; Diani E; Bovo G; Furlan S; Vitello L; Pinardi F; Striano S; Michelucci R; de Falco FA; Nobile C (2008)
    A Novel Loss-of-Function LGI1 Mutation Linked to Autosomal Dominant Lateral Temporal Epilepsy
    in Archives of neurology (Chic.)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Striano P; de Falco A; Diani E; Bovo G; Furlan S; Vitello L; Pinardi F; Striano S; Michelucci R; de Falco FA; Nobile C (literal)
Pagina inizio
  • 939 (literal)
Pagina fine
  • 942 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 65 (literal)
Rivista
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • 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). (literal)
Titolo
  • A Novel Loss-of-Function LGI1 Mutation Linked to Autosomal Dominant Lateral Temporal Epilepsy (literal)
Abstract
  • 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. (literal)
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