title: A novel loss-of-function LGI1 mutation linked to autosomal dominant lateral temporal epilepsy.
abstract: BACKGROUND
  Mutations responsible for autosomal dominant lateral temporal epilepsy have been found in the leucine-rich, glioma-inactivated 1 (LGI1) gene.
  
  
  OBJECTIVE
  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.
  
  
  METHODS
  Clinical, genetic, and functional investigations.
  
  
  METHODS
  University hospital and laboratory.
  
  
  METHODS
  An Italian family with autosomal dominant lateral temporal epilepsy.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  Our data provide further evidence that mutations in LGI1 hamper secretion of the Lgi1 protein, thereby precluding its normal function.
authors.affiliation: Muscular and Neurodegenerative Diseases Unit, Institute G. Gaslini, University of Genoa, Genoa, Italy.
authors.forename: Pasquale
authors.initials: P
authors.lastname: Striano
authors.forename: Arturo
authors.initials: A
authors.lastname: de Falco
authors.forename: Erica
authors.initials: E
authors.lastname: Diani
authors.forename: Giorgia
authors.initials: G
authors.lastname: Bovo
authors.forename: Sandra
authors.initials: S
authors.lastname: Furlan
authors.forename: Libero
authors.initials: L
authors.lastname: Vitiello
authors.forename: Federica
authors.initials: F
authors.lastname: Pinardi
authors.forename: Salvatore
authors.initials: S
authors.lastname: Striano
authors.forename: Roberto
authors.initials: R
authors.lastname: Michelucci
authors.forename: Fabrizio Antonio
authors.initials: FA
authors.lastname: de Falco
authors.forename: Carlo
authors.initials: C
authors.lastname: Nobile
mesh_terms: D000328:Adult; D002460:Cell Line; D004252:DNA Mutational Analysis / Q000379:methods; D004833:Epilepsy, Temporal Lobe / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D011506:Proteins / Q000235:genetics* / Q000378:metabolism
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C116499:LGI1 protein, human; D011506:Proteins