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

Ashish Kapoor, J. Vijai, H. M. Ravishankar, P. Satishchandra, K. Radhakrishnan, A. Anand

Research output: Contribution to journalArticle

Abstract

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 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 (χ2 = 11.44, d.f. = 1, P = 0.0007), suggesting genetic association between JME and genes located in the proximity of the DNA marker.

Original languageEnglish (US)
Pages (from-to)17-21
Number of pages5
JournalJournal of Genetics
Volume82
Issue number1-2
DOIs
StatePublished - Jan 1 2003
Externally publishedYes

Fingerprint

Juvenile Myoclonic Epilepsy
India
Mutation
Gene Frequency
Population Control
Genetic Markers
Causality
Genes
Epilepsy

Keywords

  • DNA sequencing
  • GABRA1
  • Indian families
  • Juvenile myoclonic epilepsy

ASJC Scopus subject areas

  • Genetics

Cite this

Kapoor, A., Vijai, J., Ravishankar, H. M., Satishchandra, P., Radhakrishnan, K., & Anand, A. (2003). Absence of GABRA1 Ala322Asp mutation in juvenile myoclonic epilepsy families from India. Journal of Genetics, 82(1-2), 17-21. https://doi.org/10.1007/BF02715876

Absence of GABRA1 Ala322Asp mutation in juvenile myoclonic epilepsy families from India. / Kapoor, Ashish; Vijai, J.; Ravishankar, H. M.; Satishchandra, P.; Radhakrishnan, K.; Anand, A.

In: Journal of Genetics, Vol. 82, No. 1-2, 01.01.2003, p. 17-21.

Research output: Contribution to journalArticle

Kapoor, A, Vijai, J, Ravishankar, HM, Satishchandra, P, Radhakrishnan, K & Anand, A 2003, 'Absence of GABRA1 Ala322Asp mutation in juvenile myoclonic epilepsy families from India', Journal of Genetics, vol. 82, no. 1-2, pp. 17-21. https://doi.org/10.1007/BF02715876
Kapoor 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 Jan 1;82(1-2):17-21. https://doi.org/10.1007/BF02715876
Kapoor, Ashish ; Vijai, J. ; Ravishankar, H. M. ; Satishchandra, P. ; Radhakrishnan, K. ; Anand, A. / Absence of GABRA1 Ala322Asp mutation in juvenile myoclonic epilepsy families from India. In: Journal of Genetics. 2003 ; Vol. 82, No. 1-2. pp. 17-21.
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