Skip Navigation



Human Molecular Genetics Advance Access published online on November 17, 2004
Human Molecular Genetics, doi:10.1093/hmg/ddi018
© 2004 by Oxford University Press
This Article
Right arrow FREE Full Text (PDF) Freely available
Right arrow Supplementary Material
Right arrow All Versions of this Article:
14/1/171    most recent
ddi018v2
ddi018v1
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Pinto, D.
Right arrow Articles by Koeleman, B. P.C.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Pinto, D.
Right arrow Articles by Koeleman, B. P.C.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Article

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

Dalila Pinto 1, Birgit Westland 2, Gerrit-Jan de Haan 3, Gabrielle Rudolf 4, Berta Martins da Silva 5, Edouard Hirsch 4, Dick Lindhout 2, Dorothée G.A. Kasteleijn-Nolst Trenité 6*, and Bobby P.C. Koeleman 2

1 Complex Genetics Section, DBG-Department of Medical Genetics, University Medical Center Utrecht, Utrecht, 3508 TA, The Netherlands; Department of Molecular Pathology and Immunology, Institute of Biomedical Sciences Abel Salazar, Porto, 4099-003, Portugal
2 Complex Genetics Section, DBG-Department of Medical Genetics, University Medical Center Utrecht, Utrecht, 3508 TA, The Netherlands
3 Epilepsy Institute of the Netherlands SEIN, Heemstede, 2100 AA, the Netherlands
4 Clinique Neurologique, Hôpitaux Universitaires de Strasbourg, Strasbourg, 67091, France
5 Department of Molecular Pathology and Immunology, Institute of Biomedical Sciences Abel Salazar, Porto, 4099-003, Portugal
6 Complex Genetics Section, DBG-Department of Medical Genetics, University Medical Center Utrecht, P.O. Box 85090, 3508 AB Utrecht, The Netherlands

* To whom correspondence should be addressed.
Dorothée G.A. Kasteleijn-Nolst Trenité, E-mail: d.kasteleijn{at}dmg.azu.nl


  Abstract

Paroxysmal response (PPR) is an abnormal visual sensitivity of the brain in reaction to intermittent photic stimulation. It is an epilepsy-related EEG trait with high prevalence in idiopathic epilepsies, especially in common idiopathic generalized epilepsies (IGE), 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 a broad (all PPR types) and a narrow model (exclusion of PPR types I-II and the occipital epilepsy cases) of affectedness for PPR. We found empirical genome-wide significance for linkage (Pgw(HLOD) = .004 and Pgw(NPL) = .01) for two chromosomal regions, 7q32 at D7S1804 (HLOD = 3.47 with alpha = 1, PNPL = 3.39 x 10-5) and 16p13 at D16S3395 (HLOD = 2.44 with alpha = 1, PNPL = 7.91 x 10-5), respectively. 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.


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 Nucleic Acids ResHome page
E. Mashiach, D. Schneidman-Duhovny, N. Andrusier, R. Nussinov, and H. J. Wolfson
FireDock: a web server for fast interaction refinement in molecular docking
Nucleic Acids Res., July 1, 2008; 36(suppl_2): W229 - W232.
[Abstract] [Full Text] [PDF]

Home page
 Mol. Cell. ProteomicsHome page
G. Caratu, D. Allegra, M. Bimonte, G. G. Schiattarella, C. D'Ambrosio, A. Scaloni, M. Napolitano, T. Russo, and N. Zambrano
Identification of the Ligands of Protein Interaction Domains through a Functional Approach
Mol. Cell. Proteomics, February 1, 2007; 6(2): 333 - 345.
[Abstract] [Full Text] [PDF]

Home page
 BrainHome page
M. Siniatchkin, S. Groppa, B. Jerosch, H. Muhle, C. Kurth, A. J. Shepherd, H. Siebner, and U. Stephani
Spreading photoparoxysmal EEG response is associated with an abnormal cortical excitability pattern
Brain, January 1, 2007; 130(1): 78 - 87.
[Abstract] [Full Text] [PDF]

Home page
 BrainHome page
I. E. Martinez-Juarez, M. E. Alonso, M. T. Medina, R. M. Duron, J. N. Bailey, M. Lopez-Ruiz, R. Ramos-Ramirez, L. Leon, G. Pineda, I. P. Castroviejo, et al.
Juvenile myoclonic epilepsy subsyndromes: family studies and long-term follow-up
Brain, May 1, 2006; 129(5): 1269 - 1280.
[Abstract] [Full Text] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.