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Genetic association analysis of KCNQ3 and juvenile myoclonic epilepsy in a South Indian population |
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| Authors: | Vijai J Kapoor A Ravishankar H M Cherian P J Girija A S Rajendran B Rangan G Jayalakshmi S Mohandas S Radhakrishnan K Anand A |
| Institution: | (1) Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, India;(2) Molecular Biology and Genetics Unit, Jawaharlal Nehru Center for Advanced Scientific Research, 560 064 Bangalore, India;(3) Department of Neurology, Medical College, Calicut, India;(4) West Side Hospital, Cochin, India;(5) Sri Satya Sai Hospital, Bangalore, India;(6) Department of Neurology, Nizam's Institute of Medical Sciences, Hyderabad, India |
| 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. |
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