Browsing by Author "Kapoor, A"

Now showing 1 - 3 of 3
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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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    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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    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