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

doi:10.1007/s00439-003-1003-8

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

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13 Scopus citations

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 language	English (US)
Pages (from-to)	461-463
Number of pages	3
Journal	Human genetics
Volume	113
Issue number	5
DOIs	https://doi.org/10.1007/s00439-003-1003-8
State	Published - Oct 1 2003
Externally published	Yes

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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@article{bd897cb86e484730a2750a779f4fc5b0,

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.",

author = "J. Vijai and A. Kapoor and Ravishankar, {H. M.} and Cherian, {P. J.} and Girija, {A. S.} and B. Rajendran and G. Rangan and S. Jayalakshmi and S. Mohandas and K. Radhakrishnan and A. Anand",

note = "Funding Information: Acknowledgements Financial support from SCTIMST, Trivan-drum (J.V), and CSIR, Delhi (J.V and A.K) is acknowledged. The authors thank all the families who participated in this study. Funds for the work were provided by JNCASR, Bangalore and DBT, Delhi.",

year = "2003",

month = oct,

day = "1",

doi = "10.1007/s00439-003-1003-8",

language = "English (US)",

volume = "113",

pages = "461--463",

journal = "Human genetics",

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TY - JOUR

T1 - Genetic association analysis of KCNQ3 and juvenile myoclonic epilepsy in a South Indian population

AU - Vijai, J.

AU - Kapoor, A.

AU - Ravishankar, H. M.

AU - Cherian, P. J.

AU - Girija, A. S.

AU - Rajendran, B.

AU - Rangan, G.

AU - Jayalakshmi, S.

AU - Mohandas, S.

AU - Radhakrishnan, K.

AU - Anand, A.

N1 - Funding Information: Acknowledgements Financial support from SCTIMST, Trivan-drum (J.V), and CSIR, Delhi (J.V and A.K) is acknowledged. The authors thank all the families who participated in this study. Funds for the work were provided by JNCASR, Bangalore and DBT, Delhi.

PY - 2003/10/1

Y1 - 2003/10/1

N2 - 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.

AB - 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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U2 - 10.1007/s00439-003-1003-8

DO - 10.1007/s00439-003-1003-8

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C2 - 12928862

AN - SCOPUS:0141955274

SN - 0340-6717

VL - 113

SP - 461

EP - 463

JO - Human genetics

JF - Human genetics

IS - 5

ER -

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

Abstract

ASJC Scopus subject areas

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