Browsing by Author "Balan, S"

Now showing 1 - 5 of 5
  • Item
    Failure to find association between febrile seizures and SCN1A rs3812718 polymorphism in south Indian patients with mesial temporal lobe epilepsy and hippocampal sclerosis
    (EPILEPSY RESEARCH, 2012) Balan, S; Vellichirammal, NN; Banerjee, M; Radhakrishnan, K
    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. (C) 2012 Elsevier B.V. All rights reserved.
  • Item
    Genetic Association Analysis of ATP Binding Cassette Protein Family Reveals a Novel Association of ABCB1 Genetic Variants with Epilepsy Risk, but Not with Drug-Resistance
    (PLOS ONE, 2014) Balan, S; Bharathan, SP; Vellichiramal, NN; Sathyan, S; Joseph, V; Radhakrishnan, K; Banerjee, M
    Epilepsy constitutes a heterogeneous group of disorders that is characterized by recurrent unprovoked seizures due to widely different etiologies. Multidrug resistance remains a major issue in clinical epileptology, where one third of patients with epilepsy continue to have seizures. Role of efflux transporters in multidrug resistant epilepsy has been attributed to drug-resistant epilepsy although, with discrepant observation in genetic studies. These discrepancies could be attributed to variety of factors such as variable definition of the anti-epileptic drug (AED)-resistance, variable epilepsy phenotypes and ethnicities among the studies. In the present study we inquired the role of multidrug transporters ABCB1 and ABCG2 variants in determining AED-resistance and susceptibility to epilepsy in three well-characterized cohorts comprising of mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS) (prototype for AED-resistant epilepsy); juvenile myoclonic epilepsy (JME) (prototype for AED-responsive epilepsy); and healthy non-epileptic controls, in 738 subjects of Malayalam speaking south Indian ancestry. ABCB1 and ABCG2 variants were not found to be associated with drug resistance when AED-resistant and AED-responsive cohorts were compared. However, a significant association was observed between ABCB1 (C3435T) rs1045642 and risk of having epilepsy (MTLE-HS and JME pooled cohort; genotypic p-value = 0.0002; allelic p-value = 0.004). This association was seen persistent with MTLE-HS (genotypic p-value = 0.0008; allelic p-value = 0.004) and also with JME (genotypic p-value = 0.01; allelic p-value = 0.05) cohort individually. In-silico functional prediction indicated that ABCB1 rs1045642 has a deleterious impact on protein coding function and in splicing regulation. We conclude that the ABCB1 and ABCG2 variants do not confer to AED-resistance in the study population. However, ABCB1 rs1045642 increases vulnerability to epilepsy with greater tendency for MTLE-HS in south Indian ancestry from Kerala.
  • Item
    Major vault protein (MVP) gene polymorphisms and drug resistance in mesial temporal lobe epilepsy with hippocampal sclerosis
    (Gene., 2013-07) Balan, S; Lekshmi, S; Radha, K; Sathyan, S; Vijai, J; Banerjee, M; Radhakrishnan, K
  • Item
  • Item
    Role of ABCB1 Variants on Postoperative Seizure Recurrence in Patients with AED-Resistant Temporal Lobe Epilepsy
    (NEUROLOGY, 2012) Balan, S; Sumitha, PB; Bharadwaj, T; Lekshmi, S; Sathyan, S; Radhakrishnan, K; Banerjee, M