Browsing by Author "Vijai, J"

Now showing 1 - 7 of 7
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    A locus for juvenile myoclonic epilepsy maps to 2q33-q36
    (HUMAN GENETICS, 2010) Ratnapriya, R; Vijai, J; Kadandale, JS; Iyer, RS; Radhakrishnan, K; Anand, A
    We performed a whole genome linkage analysis in a three-generation south Indian family with multiple members affected with juvenile myoclonic epilepsy (JME). The maximum two-point LOD score obtained was 3.32 at recombination fraction (theta) = 0 for D2S2248. The highest multipoint score of 3.59 was observed for the genomic interval between D2S2322 and D2S2228 at the chromosomal region 2q33-q36. Proximal and distal boundaries of the critical genetic interval were defined by D2S116 and D2S2390, respectively. A 24-Mb haplotype was found to co-segregate with JME in the family. While any potentially causative variant in the functional candidate genes, SLC4A3, SLC23A3, SLC11A1 and KCNE4, was not detected, we propose to examine brain-expressed NRP2, MAP2, PAX3, GPR1, TNS1 and DNPEP, and other such positional candidate genes to identify the disease-causing gene for the disorder.
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    Absence of GABRA1 Ala322Asp mutation in juvenile myoclonic epilepsy families from India
    (JOURNAL OF GENETICS, 2003) Kapoor, A; Vijai, J; Ravishankar, HM; Satishchandra, P; Radhakrishnan, K; Anand, A
    An Ala322Asp mutation in the GABRA1 gene was recently reported to be responsible for causing the autosomal dominant (AD) form of juvenile myoclonic epilepsy (JME) in a French-Canadian family. To study if WE families from India exhibiting the AD mode of inheritance carry the Ala322Asp mutation, we examined 35 unrelated JME-affected individuals from such families for the Ala322Asp mutation in GABRA1. Ala322Asp mutation was not observed in any of these JME-affected individuals, suggesting that this mutation is unlikely to be a predominant mutation involved in causation of epilepsy. To evaluate the possibility of other mutation(s) in and around GABRA1 that may predispose to JME, we compared the allele frequencies at two marker loci, D5S2118 and D5S422, flanking GABRA1, in probands and 100 matched population controls. One of the allele frequencies at D5S422 shows a significant difference between the cases and controls (chi(2) = 11.44, d.f. = 1, P = 0.0007), suggesting genetic association between WE and genes located in the proximity of the DNA marker.
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    Clinical characteristics of a South Indian cohort of juvenile myoclonic epilepsy probands
    (SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 2003)
    Despite the distinctive clinical and electroencephalographic features known for five decades, even today, juvenile myoclonic epilepsy (JME) is frequently unrecognised and misdiagnosed in both developed and developing countries. Utilising 183 JME probands belonging to the South Indian state of Kerala, assembled through a tertiary referral centre for molecular genetic studies, we explored the phenotypic peculiarities, clinical genetics, and problems and pitfalls in the diagnosis of JME. At referral, only six (3.3%) patients carried the diagnostic label of JME, default in diagnosis resulted from failure to elicit the history of myoclonic jerks by the referring physicians. During the mean delay of 8.6 +/- 7.0 years in diagnosing JME, seizure control in the majority was poor due to inappropriate antiepileptic drug (AED) therapy. A history of epileptic seizures was obtained in 6.2% of the first-degree and 2.2% of the second-degree relatives of the probands; 37.7 and 11.1% of them, respectively, were diagnosed as JME. Although most of the clinical features of our cohort were in accordance with the literature, two notable differences we observed were the relatively increased occurrence of absence seizures and low frequency of photoparoxysmal responses. Although the variability in the clinical characteristics of JME may be apparent due to differences in the ascertainment of the data, they may well be an expression of a true clinical heterogeneity, and are in accordance with the complex and variable mode of inheritance and conflicting linkage studies reported for this syndrome from different ethnic groups. (C) 2003 BEA Trading Ltd. Published by Elsevier Science Ltd. All rights reserved.
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    Genetic association analysis of KCNQ3 and juvenile myoclonic epilepsy in a South Indian population
    (HUMAN GENETICS, 2003)
    Juvenile myoclonic epilepsy (JME) is a common subtype of idiopathic generalized epilepsy that shows a complex pattern of inheritance. We have tested the association between JME phenotype and an intragenic marker in KCNQ3 by using the transmission disequilibrium test in 119 probands and their parents. Mutations in KCNQ3 are known to cause benign familial neonatal convulsions and are involved in the physiologically important M current in neurons. Our results provide suggestive evidence of allelic association between JME and KCNQ3 (P-value=0.008) and raise an interesting possibility of a genetic contribution to JME, viz., of a gene that causes a monogenic form of human epilepsy.
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    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
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    Protective and susceptibility effects of hSKCa3 allelic variants on juvenile myoclonic epilepsy
    (JOURNAL OF MEDICAL GENETICS, 2005) Vijai, J; Kapoor, A; Ravishankar, HM; Cherian, PJ; Kuruttukulam, G; Rajendran, B; Sridharan, R; Rangan, G; Girija, AS; Jayalakshmi, S; Mohandas, S; Mani, KS; Radhakrishnan, K; Anand, A