Positive association between benign familial infantile convulsions and LGI4.
OBJECTIVE
LGI4 is located in 19q13.11, where the locus of benign familial infantile convulsions (BFIC) has been mapped. LGI4 belongs to a family of proteins with the epilepsy-associated repeat (EAR) domain and is associated with various epilepsies. We investigated whether LGI4 is a candidate gene for BFIC.


METHODS
Fifteen patients with BFIC were examined for mutations and/or polymorphisms of LGI4 by using a direct sequencing method.


RESULTS
Several frequent polymorphisms were identified. The genotype frequency distribution of c.1722G/A polymorphism was significantly different between patients with BFIC and control subjects (p<0.05). Logistic regression analysis showed that the G allele of c.1722G/A polymorphism had significant recessive effects on the increased relative risk for BFIC (p<0.05). There was no association between c.1722G/A polymorphism and benign familial neonatal convulsion, an epilepsy phenotype similar to BFIC but genetically distinguished from BFIC.


CONCLUSIONS
The positive genotypic association between BFIC and c.1722G/A polymorphism suggests that LGI4 might contribute to the susceptibility to BFIC.
Ishii
Atsushi
A
Department of Pediatrics, School of Medicine, Fukuoka University, Jonanku, Fukuoka, Japan.
Zhang
Bo
B
Kaneko
Sunao
S
Hirose
Shinichi
S
D020936:Epilepsy, Benign Neonatal / Q000235:genetics*; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007564:Japan; D009419:Nerve Tissue Proteins; D010641:Phenotype; D011110:Polymorphism, Genetic; D017422:Sequence Analysis, DNA
D016326:Extracellular Matrix Proteins; C488167:LGI4 protein, human; D009419:Nerve Tissue Proteins