title: Genetic association analysis of KCNQ3 and juvenile myoclonic epilepsy in a South Indian population.
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.
authors.affiliation: Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, India.
authors.forename: J
authors.initials: J
authors.lastname: Vijai
authors.forename: A
authors.initials: A
authors.lastname: Kapoor
authors.forename: H M
authors.initials: HM
authors.lastname: Ravishankar
authors.forename: P J
authors.initials: PJ
authors.lastname: Cherian
authors.forename: A S
authors.initials: AS
authors.lastname: Girija
authors.forename: B
authors.initials: B
authors.lastname: Rajendran
authors.forename: G
authors.initials: G
authors.lastname: Rangan
authors.forename: S
authors.initials: S
authors.lastname: Jayalakshmi
authors.forename: S
authors.initials: S
authors.lastname: Mohandas
authors.forename: K
authors.initials: K
authors.lastname: Radhakrishnan
authors.forename: A
authors.initials: A
authors.lastname: Anand
mesh_terms: D001921:Brain / Q000503:physiopathology; D017931:DNA Primers; D005260:Female; D006801:Humans; D007194:India; D007438:Introns; D051659:KCNQ3 Potassium Channel; D015810:Linkage Disequilibrium; D008297:Male; D020190:Myoclonic Epilepsy, Juvenile / Q000235:genetics*; D010641:Phenotype; D016133:Polymerase Chain Reaction; D015221:Potassium Channels / Q000235:genetics*; D024642:Potassium Channels, Voltage-Gated; D044465:White People
chemical_list: D017931:DNA Primers; D051659:KCNQ3 Potassium Channel; C496916:KCNQ3 protein, human; D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated