[Clinical characteristics and LGI1 gene mutation analysis on an autosomal dominant lateral temporal lobe epilepsy].
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.
Xi
Zhi-qin
ZQ
Department of Neurology, the First Affiliated Hospital, Chongqing Medical University, Chongqing 400016, China.
Wang
Xue-feng
XF
Lü
Yang
Y
Wang
Liang
L
Xiao
Fei
F
Guan
Li-feng
LF
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
D047908:Intracellular Signaling Peptides and Proteins; C116499:LGI1 protein, human; D011506:Proteins