Genome search for susceptibility loci of common idiopathic generalised epilepsies

Thomas Sander, Herbert Schulz, Kathrin Saar, Elena Gennaro, M. Concetta Riggio, Amedeo Bianchi, Federico Zara, David Luna, Christine Bulteau, Anna Kaminska, Dorothée Ville, Cécile Cieuta, Fabienne Picard, Jean François Prud'homme, Louise Bate, Anders Sundquist, R. Mark Gardiner, Guus A M A J Janssen, Gerrit Jan De Haan, Dorothée G A Kasteleijn-Nolst-TrenitéAdri Bader, Dick Lindhout, Olaf Riess, Thomas F. Wienker, Dieter Janz, André Reis

Research output: Contribution to journalArticle

Abstract

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 (Z(NPL) = 4.19 at D3S3725; P = 0.000017) and suggestive evidence for two IGE loci on chromosome 14q23 (Z(NPL) = 3.28 at D14S63; P = 0.000566), and chromosome 2q36 (Z(NPL) = 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.

Original languageEnglish
Pages (from-to)1465-1472
Number of pages8
JournalHuman Molecular Genetics
Volume9
Issue number10
Publication statusPublished - Jun 12 2000

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Genome
Chromosomes
Juvenile Myoclonic Epilepsy
Absence Epilepsy
Idiopathic Generalized Epilepsy
Microsatellite Repeats
Siblings
Seizures
Ions
Mutation
Genes

ASJC Scopus subject areas

  • Genetics

Cite this

Sander, T., Schulz, H., Saar, K., Gennaro, E., Riggio, M. C., Bianchi, A., ... Reis, A. (2000). Genome search for susceptibility loci of common idiopathic generalised epilepsies. Human Molecular Genetics, 9(10), 1465-1472.

Genome search for susceptibility loci of common idiopathic generalised epilepsies. / Sander, Thomas; Schulz, Herbert; Saar, Kathrin; Gennaro, Elena; Riggio, M. Concetta; Bianchi, Amedeo; Zara, Federico; Luna, David; Bulteau, Christine; Kaminska, Anna; Ville, Dorothée; Cieuta, Cécile; Picard, Fabienne; Prud'homme, Jean François; Bate, Louise; Sundquist, Anders; Gardiner, R. Mark; Janssen, Guus A M A J; De Haan, Gerrit Jan; Kasteleijn-Nolst-Trenité, Dorothée G A; Bader, Adri; Lindhout, Dick; Riess, Olaf; Wienker, Thomas F.; Janz, Dieter; Reis, André.

In: Human Molecular Genetics, Vol. 9, No. 10, 12.06.2000, p. 1465-1472.

Research output: Contribution to journalArticle

Sander, T, Schulz, H, Saar, K, Gennaro, E, Riggio, MC, Bianchi, A, Zara, F, Luna, D, Bulteau, C, Kaminska, A, Ville, D, Cieuta, C, Picard, F, Prud'homme, JF, Bate, L, Sundquist, A, Gardiner, RM, Janssen, GAMAJ, De Haan, GJ, Kasteleijn-Nolst-Trenité, DGA, Bader, A, Lindhout, D, Riess, O, Wienker, TF, Janz, D & Reis, A 2000, 'Genome search for susceptibility loci of common idiopathic generalised epilepsies', Human Molecular Genetics, vol. 9, no. 10, pp. 1465-1472.
Sander T, Schulz H, Saar K, Gennaro E, Riggio MC, Bianchi A et al. Genome search for susceptibility loci of common idiopathic generalised epilepsies. Human Molecular Genetics. 2000 Jun 12;9(10):1465-1472.
Sander, Thomas ; Schulz, Herbert ; Saar, Kathrin ; Gennaro, Elena ; Riggio, M. Concetta ; Bianchi, Amedeo ; Zara, Federico ; Luna, David ; Bulteau, Christine ; Kaminska, Anna ; Ville, Dorothée ; Cieuta, Cécile ; Picard, Fabienne ; Prud'homme, Jean François ; Bate, Louise ; Sundquist, Anders ; Gardiner, R. Mark ; Janssen, Guus A M A J ; De Haan, Gerrit Jan ; Kasteleijn-Nolst-Trenité, Dorothée G A ; Bader, Adri ; Lindhout, Dick ; Riess, Olaf ; Wienker, Thomas F. ; Janz, Dieter ; Reis, André. / Genome search for susceptibility loci of common idiopathic generalised epilepsies. In: Human Molecular Genetics. 2000 ; Vol. 9, No. 10. pp. 1465-1472.
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AU - Bianchi, Amedeo

AU - Zara, Federico

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AU - Prud'homme, Jean François

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AU - De Haan, Gerrit Jan

AU - Kasteleijn-Nolst-Trenité, Dorothée G A

AU - Bader, Adri

AU - Lindhout, Dick

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