title: Failure to find association between febrile seizures and SCN1A rs3812718 polymorphism in south Indian patients with mesial temporal lobe epilepsy and hippocampal sclerosis.
abstract: We compared the allele and genotype frequencies of SCN1A SNP rs3812718 between patients with MTLE-HS of south Indian ancestry with and without febrile seizures (FS) and with ethnically matched controls. While we observed no significant difference in allele and genotype frequencies of rs3812718 between MTLE-HS patients with and without FS, A allele and AA genotype were overrepresented in MTLE-HS patients when compared to controls. We conclude that in the population studied, although rs3812718 polymorphism increases the susceptibility to MTLE-HS, this is not by increasing the susceptibility to FS.
authors.affiliation: R. Madhavan Nayar Center for Comprehensive Epilepsy Care, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India.
authors.forename: Shabeesh
authors.initials: S
authors.lastname: Balan
authors.forename: Neetha Nanoth
authors.initials: NN
authors.lastname: Vellichirammal
authors.forename: Moinak
authors.initials: M
authors.lastname: Banerjee
authors.forename: Kurupath
authors.initials: K
authors.lastname: Radhakrishnan
mesh_terms: D000328:Adult; D000483:Alleles; D004833:Epilepsy, Temporal Lobe / Q000235:genetics* / Q000473:pathology; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D006624:Hippocampus / Q000473:pathology*; D006801:Humans; D007194:India; D008297:Male; D008875:Middle Aged; D062550:NAV1.1 Voltage-Gated Sodium Channel / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012598:Sclerosis / Q000473:pathology; D003294:Seizures, Febrile / Q000235:genetics* / Q000473:pathology; D044465:White People / Q000235:genetics
chemical_list: D062550:NAV1.1 Voltage-Gated Sodium Channel; C568242:SCN1A protein, human