Skip Navigation

This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF) Freely available
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 ISI Web of Science
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 arrow Search for citing articles in:
ISI Web of Science (94)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Sander, T.
Right arrow Articles by Reis, A.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Sander, T.
Right arrow Articles by Reis, A.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Human Molecular Genetics, 2000, Vol. 9, No. 10 1465-1472
© 2000 Oxford University Press

Genome search for susceptibility loci of common idiopathic generalised epilepsies

Thomas Sander+, Herbert Schulz §, Kathrin Saar1,§, Elena Gennaro2, M. Concetta Riggio2, Amedeo Bianchi2, Federico Zara2, David Luna3, Christine Bulteau3, Anna Kaminska3, Dorothée Ville3, Cécile Cieuta3, Fabienne Picard3, Jean-François Prud’homme4, Louise Bate5, Anders Sundquist5, R. Mark Gardiner5, Guus A.M.A.J. Janssen6, Gerrit-Jan de Haan6, Dorothée G.A. Kasteleijn-Nolst-Trenité6, Adri Bader6, Dick Lindhout6, Olaf Riess, Thomas F. Wienker1, Dieter Janz and André Reis1

Epilepsy Genetics Group, Department of Neurology, University Hospital Charité, Campus Virchow Clinic, Humboldt University of Berlin, Augustenburger Platz 1, 13353 Berlin, Germany, 1Gene Mapping Centre, Max Delbrueck Centre, Robert-Roessle Str. 10, Berlin, Germany, 2Italian League against Epilepsy Collaborative Group on Genetics, Via Foscolo 7, 40123 Bologna, Italy, 3Association pour la Recherche sur la Génétique des Epilepsies, Hôpital Saint Vincent de Paul, 82 avenue Denfert Rochereau, 75674 Paris cedex 14, France, 4Généthon, 1 bis rue de l’Internationale, 91000 Evry, France, 5European Concerted Action on the Genetic Analysis of Epilepsy, Department of Paediatrics, Royal Free and University College Medical School, University College London, Gower Street Campus, The Rayne Institute, 5 University Street, London WC1E 6JJ, UK and 6Dutch Research Group on Juvenile Myoclonic Epilepsy and Idiopathic Generalised Epilepsy, MGC-Department of Clinical Genetics, Erasmus University Rotterdam, dr. Molewaterplein 50, 3000 DR Rotterdam, The Netherlands.

Genetic factors play a major role in the aetiology of idiopathic generalised epilepsies (IGEs). The present genome scan was designed to identify susceptibility loci that predispose to a spectrum of common IGE syndromes. Our collaborative study included 130 IGE-multiplex families ascertained through a proband with either an idiopathic absence epilepsy or juvenile myoclonic epilepsy, and one or more siblings affected by an IGE trait. In total, 413 microsatellite polymorphisms were genotyped in 617 family members. Non-parametric multipoint linkage analysis, using the GeneHunter program, provided significant evidence for a novel IGE susceptibility locus on chromosome 3q26 (ZNPL = 4.19 at D3S3725; P = 0.000017) and suggestive evidence for two IGE loci on chromosome 14q23 (ZNPL = 3.28 at D14S63; P = 0.000566), and chromosome 2q36 (ZNPL = 2.98 at D2S1371; P = 0.000535). The present linkage findings provide suggestive evidence that at least three genetic factors confer susceptibility to generalised seizures in a broad spectrum of IGE syndromes. The chromosomal segments identified harbour several genes involved in the regulation of neuronal ion influx which are plausible candidates for mutation screening.

+ To whom correspondence should be addressed. Tel: +49 30 45060028, Fax: +49 30 45060938

§ These authors contributed equally to the present study.


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
 Am. J. Physiol. Cell Physiol.Home page
J. R. Casey, W. S. Sly, G. N. Shah, and B. V. Alvarez
Bicarbonate homeostasis in excitable tissues: role of AE3 Cl-/HCOFormula exchanger and carbonic anhydrase XIV interaction
Am J Physiol Cell Physiol, November 1, 2009; 297(5): 1091 - 1102.
[Abstract] [Full Text] [PDF]

Home page
 Am. J. Physiol. Cell Physiol.Home page
G. L. Vilas, D. E. Johnson, P. Freund, and J. R. Casey
Characterization of an epilepsy-associated variant of the human Cl-/HCOFormula exchanger AE3
Am J Physiol Cell Physiol, January 1, 2009; 297(3): C526 - C536.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
R. Nabbout, S. Baulac, I. Desguerre, N. Bahi-Buisson, C. Chiron, M. Ruberg, O. Dulac, and E. LeGuern
New locus for febrile seizures with absence epilepsy on 3p and a possible modifier gene on 18p
Neurology, April 24, 2007; 68(17): 1374 - 1381.
[Abstract] [Full Text] [PDF]

Home page
 Physiol. Rev.Home page
H. Khosravani and G. W. Zamponi
Voltage-gated calcium channels and idiopathic generalized epilepsies.
Physiol Rev, July 1, 2006; 86(3): 941 - 966.
[Abstract] [Full Text] [PDF]

Home page
 Mol. Cell. Biol.Home page
M. Hentschke, M. Wiemann, S. Hentschke, I. Kurth, I. Hermans-Borgmeyer, T. Seidenbecher, T. J. Jentsch, A. Gal, and C. A. Hubner
Mice with a Targeted Disruption of the Cl-/HCO3- Exchanger AE3 Display a Reduced Seizure Threshold
Mol. Cell. Biol., January 1, 2006; 26(1): 182 - 191.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
J. C. Mulley, I. E. Scheffer, L. A. Harkin, S. F. Berkovic, and L. M. Dibbens
Susceptibility genes for complex epilepsy
Hum. Mol. Genet., October 15, 2005; 14(suppl_2): R243 - R249.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
D. Pinto, B. Westland, G.-J. de Haan, G. Rudolf, B. M. da Silva, E. Hirsch, D. Lindhout, D. G.A. K.-N. Trenite, and B. P.C. Koeleman
Genome-wide linkage scan of epilepsy-related photoparoxysmal electroencephalographic response: evidence for linkage on chromosomes 7q32 and 16p13
Hum. Mol. Genet., January 1, 2005; 14(1): 171 - 178.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
D. D'Agostino, M. Bertelli, S. Gallo, S. Cecchin, E. Albiero, P. G. Garofalo, A. Gambardella, J.-M. St. Hilaire, H. Kwiecinski, E. Andermann, et al.
Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy
Neurology, October 26, 2004; 63(8): 1500 - 1502.
[Abstract] [Full Text] [PDF]

Home page
 Physiol. GenomicsHome page
M. I. Niemeyer, Y. R. Yusef, I. Cornejo, C. A. Flores, F. V. Sepulveda, and L. P. Cid
Functional evaluation of human ClC-2 chloride channel mutations associated with idiopathic generalized epilepsies
Physiol Genomics, September 16, 2004; 19(1): 74 - 83.
[Abstract] [Full Text] [PDF]

Home page
 Physiol. GenomicsHome page
S. Hu, M. Z. Labuda, M. Pandolfo, G. G. Goss, H. E. McDermid, and D. W. Ali
Variants of the KCNMB3 regulatory subunit of maxi BK channels affect channel inactivation
Physiol Genomics, November 11, 2003; 15(3): 191 - 198.
[Abstract] [Full Text] [PDF]

Home page
 BrainHome page
I. M. P. Gommans, M. Davis, K. Saar, M. Lammens, F. Mastaglia, P. Lamont, G. van Duijnhoven, H. J. ter Laak, A. Reis, O. J. M. Vogels, et al.
A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions
Brain, July 1, 2003; 126(7): 1545 - 1551.
[Abstract] [Full Text] [PDF]

Home page
 BrainHome page
C. Marini, L. A. Harkin, R. H. Wallace, J. C. Mulley, I. E. Scheffer, and S. F. Berkovic
Childhood absence epilepsy and febrile seizures: a family with a GABAA receptor mutation
Brain, January 1, 2003; 126(1): 230 - 240.
[Abstract] [Full Text] [PDF]

Home page
 Physiol. Rev.Home page
T. J. Jentsch, V. Stein, F. Weinreich, and A. A. Zdebik
Molecular Structure and Physiological Function of Chloride Channels
Physiol Rev, April 1, 2002; 82(2): 503 - 568.
[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.