Journal Article


David B Goldstein
Sanjay M Sisodiya
Norman Delanty
Colin P Doherty
Nicholas W Wood
Samuel F Berkovic
Ingrid E Scheffer
John S Duncan
Josemir W Sander
Terence J O'Brien
and 31 others



kcnmb4 protein human phenotype synapsins large conductance calcium activated potassium channel beta subunits gabrr2 protein human genetic predisposition to disease epilepsy polymorphism single nucleotide chromosome mapping syndrome receptors gaba a succinate semialdehyde dehydrogenase kv1 3 potassium channel nerve tissue proteins kcnab1 protein human aldh5a1 protein human adult humans genetic variation cohort studies seizures genotype case control studies genetics receptors gaba b

Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study. (2007)

Abstract The Epilepsy Genetics (EPIGEN) Consortium was established to undertake genetic mapping analyses with augmented statistical power to detect variants that influence the development and treatment of common forms of epilepsy. We examined common variations across 279 prime candidate genes in 2717 case and 1118 control samples collected at four independent research centres (in the UK, Ireland, Finland, and Australia). Single nucleotide polymorphism (SNP) and combined set-association analyses were used to examine the contribution of genetic variation in the candidate genes to various forms of epilepsy. We did not identify clear, indisputable common genetic risk factors that contribute to selected epilepsy subphenotypes across multiple populations. Nor did we identify risk factors for the general all-epilepsy phenotype. However, set-association analysis on the most significant p values, assessed under permutation, suggested the contribution of numerous SNPs to disease predisposition in an apparent population-specific manner. Variations in the genes KCNAB1, GABRR2, KCNMB4, SYN2, and ALDH5A1 were most notable. The underlying genetic component to sporadic epilepsy is clearly complex. Results suggest that many SNPs contribute to disease predisposition in an apparently population-specific manner. However, subtle differences in phenotyping across cohorts, combined with a poor understanding of how the underlying genetic component to epilepsy aligns with current phenotypic classifications, might also account for apparent population-specific genetic risk factors. Variations across five genes warrant further study in independent cohorts to clarify the tentative association.
Collections Ireland -> Royal College of Surgeons in Ireland -> PubMed

Full list of authors on original publication

David B Goldstein, Sanjay M Sisodiya, Norman Delanty, Colin P Doherty, Nicholas W Wood, Samuel F Berkovic, Ingrid E Scheffer, John S Duncan, Josemir W Sander, Terence J O'Brien and 31 others

Experts in our system

David B Goldstein
Royal College of Surgeons in Ireland
Sanjay M Sisodiya
Royal College of Surgeons in Ireland
Total Publications: 13
Norman Delanty
Royal College of Surgeons in Ireland
Total Publications: 41
Colin P Doherty
Trinity College Dublin
Total Publications: 35