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Human Molecular Genetics Advance Access originally published online on November 17, 2004
Human Molecular Genetics 2005 14(1):171-178; doi:10.1093/hmg/ddi018
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Human Molecular Genetics, Vol. 14, No. 1 © Oxford University Press 2005; all rights reserved

Genome-wide linkage scan of epilepsy-related photoparoxysmal electroencephalographic response: evidence for linkage on chromosomes 7q32 and 16p13

Dalila Pinto1,4, Birgit Westland1, Gerrit-Jan de Haan2, Gabrielle Rudolf3, Berta Martins da Silva4, Edouard Hirsch3, Dick Lindhout1, Dorothée G.A. Kasteleijn-Nolst Trenité1,* and Bobby P.C. Koeleman1

1Complex Genetics Section, DBG-Department of Medical Genetics, University Medical Center Utrecht, Utrecht, 3508 AB, The Netherlands, 2Epilepsy Institute of The Netherlands SEIN, Heemstede, 2100 AA, The Netherlands, 3Clinique Neurologique, Hôpitaux Universitaires de Strasbourg, Strasbourg 67091, France and 4Department of Molecular Pathology and Immunology, Institute of Biomedical Sciences Abel Salazar, Porto 4099-003, Portugal

* To whom correspondence should be addressed at: DBG-Department of Medical Genetics, University Medical Center Utrecht, PO Box 85090, 3508 AB Utrecht, The Netherlands. Tel: +31 302504303; Fax: +31 302505301; Email: d.kasteleijn{at}dmg.azu.nl

Received September 20, 2004; Revised October 28, 2004; Accepted November 5, 2004

Photoparoxysmal response (PPR) is an abnormal visual sensitivity of the brain in reaction to intermittent photic stimulation. It is an epilepsy-related electroencephalographic trait with high prevalence in idiopathic epilepsies, especially in common idiopathic generalized epilepsies (IGEs), such as childhood absence epilepsy and juvenile myoclonic epilepsy. This degree of co-morbidity suggests that PPR may be involved in the predisposition to IGE. The identification of genes for PPR would, therefore, aid the dissection of the genetic basis of IGE. Sixteen PPR-multiplex families were collected to conduct a genome-wide linkage scan using broad (all PPR types) and narrow (exclusion of PPR types I and II and the occipital epilepsy cases) models of affectedness for PPR. We found an empirical genome-wide significance for parametric (HLOD) and non-parametric (NPL) linkage (Pgw(HLOD)=0.004 and Pgw(NPL)=0.01) for two respective chromosomal regions, 7q32 at D7S1804 (HLOD=3.47 with {alpha}=1, PNPL=3.39x10–5) and 16p13 at D16S3395 (HLOD=2.44 with {alpha}=1, PNPL=7.91x10–5). These two genomic regions contain genes that are important for the neuromodulation of cortical dynamics and may represent good targets for candidate-gene studies. Our study identified two susceptibility loci for PPR, which may be related to the underlying myoclonic epilepsy phenotype present in the families studied.


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