The -1021C->T DBH gene variant is not associated with epilepsy or antiepileptic drug response

C Depondt; H R Cock; D G Healy; M W Burley; D Weinshenker; N W Wood; D B Goldstein; S M Sisodiya

doi:10.1212/01.wnl.0000142092.16719.ad

The -1021C->T DBH gene variant is not associated with epilepsy or antiepileptic drug response

Neurology. 2004 Oct 26;63(8):1497-9. doi: 10.1212/01.wnl.0000142092.16719.ad.

Authors

C Depondt¹, H R Cock, D G Healy, M W Burley, D Weinshenker, N W Wood, D B Goldstein, S M Sisodiya

Affiliation

¹ Department of Molecular Neurosciences, Institute of Neurology, London, UK.

PMID: 15505174
DOI: 10.1212/01.wnl.0000142092.16719.ad

Abstract

Dopamine beta-hydroxylase (DBH) catalyzes the conversion of dopamine to norepinephrine (NE). Animal studies show that genes in the NE pathway are candidates for susceptibility to epilepsy and antiepileptic drug (AED) response. The authors genotyped the -1021C-->T major functional polymorphism in the DBH gene in 675 patients with epilepsy and 1,087 controls. The authors found no association with epilepsy, several epilepsy subtypes, or AED response. The results suggest that the -1021C-->T variant does not contribute to epilepsy.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Anticonvulsants / metabolism*
Cohort Studies
DNA Mutational Analysis
Dopamine beta-Hydroxylase / genetics*
Drug Resistance / genetics*
Epilepsy / drug therapy
Epilepsy / genetics*
Epilepsy / metabolism
Europe
Female
Gene Frequency / genetics
Genetic Predisposition to Disease / genetics
Genetic Testing
Genetic Variation / genetics
Genotype
Humans
Male
Norepinephrine / biosynthesis*
Point Mutation / genetics
Polymorphism, Single Nucleotide / genetics*

Substances

Anticonvulsants
Dopamine beta-Hydroxylase
Norepinephrine