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Author 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.
Source Sree Chitra Tirunal Institute for Medical Sciences & Technology
Content type Text
Publisher Human Genetics
File Format PDF
Language English
Subject Domain (in DDC) Technology ♦ Medicine & health ♦ Diseases
Subject Domain (in MeSH) Nervous System Diseases ♦ Diseases ♦ Genetic Phenomena ♦ Biological Sciences
Subject Keyword Neurology
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.
Education Level UG and PG
Learning Resource Type Article
Educational Framework Medical Council of India (MCI)
Journal HUMAN GENETICS
Volume Number 113
Issue Number 5
Page Count 3
Starting Page 461
Ending Page 463