Mutation analysis of the leucine-rich, glioma inactivated 1 gene (LGI1) in Japanese febrile seizure patients.
Mutations in the leucine-rich, glioma inactivated 1 gene (LGI1) were recently identified in some families with autosomal dominant lateral temporal epilepsy (ADLTE). To investigate whether the LGI1 gene is a susceptibility gene for febrile seizures (FS), we performed a systematic search for mutations in 94 unrelated Japanese patients with FS. We detected two intronic polymorphisms (IVS2 + 19 A/G and IVS6 - 18 T/C). No non-synonymous mutation was detected. We genotyped these polymorphisms and performed a case-control study and transmission disequilibrium testing (TDT) of 62 FS families (n = 230) and 105 control subjects. None of the polymorphisms was significantly associated with FS. Our results indicate that genomic variations in the LGI1 gene are not likely to be substantially involved in the etiology of FS in the Japanese population.
Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Tsukuba, Ibaraki-ken 305-8575, Japan.
J
J
Nakayama
K
K
Hamano
N
N
Iwasaki
M
M
Ohta
S
S
Nakahara
A
A
Matsui
T
T
Arinami
D000483:Alleles; D001921:Brain / Q000378:metabolism*; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D004833:Epilepsy, Temporal Lobe / Q000208:ethnology / Q000235:genetics; D015870:Gene Expression / Q000235:genetics; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D007438:Introns / Q000235:genetics; D007564:Japan / Q000453:epidemiology; D007930:Leucine / Q000378:metabolism*; D017354:Point Mutation / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics; D011506:Proteins / Q000235:genetics*; D003294:Seizures, Febrile / Q000208:ethnology / Q000235:genetics*
D047908:Intracellular Signaling Peptides and Proteins; C116499:LGI1 protein, human; D011506:Proteins; D007930:Leucine