Genetic association analysis of KCNQ3 and juvenile myoclonic epilepsy in a South Indian population

J. Vijai, A. Kapoor, H. M. Ravishankar, P. J. Cherian, A. S. Girija, B. Rajendran, G. Rangan, S. Jayalakshmi, S. Mohandas, K. Radhakrishnan, A. Anand

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish (US)
Pages (from-to)461-463
Number of pages3
JournalHuman genetics
Volume113
Issue number5
DOIs
StatePublished - Oct 1 2003

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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