title: [Clinical characteristics and LGI1 gene mutation analysis on an autosomal dominant lateral temporal lobe epilepsy].
abstract: OBJECTIVE
  To report the clinical and genetic study of a new Chinese family with autosomal dominant lateral temporal lobe epilepsy (ADLTE).
  
  
  METHODS
  The living affected members underwent a full clinical, neurophysiological, electroencephalogram (EEG), and magnetic resonance imaging (MRI) study. Genetic analysis was performed by LGI1 DNA sequence analysis.
  
  
  RESULTS
  The clinical feature of the patients was coincidence wall with the definition of ADLTE by International League Against Epilepsy in 2001. The living affected members had an adult or children onset of drug-responsive tonic-clonic seizures or complex partial seizures constantly preceded by auditory or visionary aura. Routine EEG revealed no focal abnormalities over both temporal regions. MRI detected no structural abnormality. Analysis of LGI1 gene showed no mutation in all affected members.
  
  
  CONCLUSIONS
  This kindred has typical clinical manifestations of ADLTE. The pathogenesis has no association with mutation of the exons of LGI1 gene.
authors.affiliation: Department of Neurology, the First Affiliated Hospital, Chongqing Medical University, Chongqing 400016, China.
authors.forename: Zhi-qin
authors.initials: ZQ
authors.lastname: Xi
authors.forename: Xue-feng
authors.initials: XF
authors.lastname: Wang
authors.forename: Yang
authors.initials: Y
authors.lastname: Lü
authors.forename: Liang
authors.initials: L
authors.lastname: Wang
authors.forename: Fei
authors.initials: F
authors.lastname: Xiao
authors.forename: Li-feng
authors.initials: LF
authors.lastname: Guan
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D001308:Auditory Perceptual Disorders / Q000150:complications; D002648:Child; D004833:Epilepsy, Temporal Lobe / Q000150:complications / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D009154:Mutation; D010375:Pedigree; D011506:Proteins / Q000235:genetics*; D013702:Temporal Lobe; D055815:Young Adult
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C116499:LGI1 protein, human; D011506:Proteins