Absence of GABRA1 Ala322Asp mutation in juvenile myoclonic epilepsy families from India.

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dc.contributor.authorKapoor, Aen_US
dc.contributor.authorVijai, Jen_US
dc.contributor.authorRavishankar, H Men_US
dc.contributor.authorSatishchandra, Pen_US
dc.contributor.authorRadhakrishnan, Ken_US
dc.contributor.authorAnand, Aen_US
dc.date.accessioned2003-04-25en_US
dc.date.accessioned2009-06-02T07:20:47Z
dc.date.available2003-04-25en_US
dc.date.available2009-06-02T07:20:47Z
dc.date.issued2003-04-25en_US
dc.description.abstractAn 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 JME 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-square = 11.44, d.f. = 1, P = 0.0007), suggesting genetic association between JME and genes located in the proximity of the DNA marker.en_US
dc.description.affiliationMolecular Biology and Genetics Unit, Jawaharlal Nehru Centre for Advanced Scientific Research, Jakkur, Bangalore 560 064, India. anand@jncasr.ac.inen_US
dc.identifier.citationKapoor A, Vijai J, Ravishankar HM, Satishchandra P, Radhakrishnan K, Anand A. Absence of GABRA1 Ala322Asp mutation in juvenile myoclonic epilepsy families from India. Journal of Genetics. 2003 Apr-Aug; 82(1-2): 17-21en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/114389
dc.language.isoengen_US
dc.source.urihttps://www.ias.ac.in/jgenet/index.htmlen_US
dc.subject.meshAdolescenten_US
dc.subject.meshAmino Acid Substitutionen_US
dc.subject.meshEpilepsy, Generalized --etiologyen_US
dc.subject.meshFamilyen_US
dc.subject.meshFemaleen_US
dc.subject.meshGene Frequencyen_US
dc.subject.meshGenetic Predisposition to Diseaseen_US
dc.subject.meshGenotypeen_US
dc.subject.meshHumansen_US
dc.subject.meshIndiaen_US
dc.subject.meshLinkage (Genetics)en_US
dc.subject.meshMaleen_US
dc.subject.meshMicrosatellite Repeatsen_US
dc.subject.meshMutation --geneticsen_US
dc.subject.meshMyoclonic Epilepsy, Juvenile --etiologyen_US
dc.subject.meshReceptors, GABA-A --geneticsen_US
dc.titleAbsence of GABRA1 Ala322Asp mutation in juvenile myoclonic epilepsy families from India.en_US
dc.typeComparative Studyen_US
dc.typeJournal Articleen_US
dc.typeResearch Support, Non-U.S. Gov'ten_US
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