RGD Reference Report - Polygenic control of idiopathic generalized epilepsy phenotypes in the genetic absence rats from Strasbourg (GAERS). - Rat Genome Database

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Polygenic control of idiopathic generalized epilepsy phenotypes in the genetic absence rats from Strasbourg (GAERS).

Authors: Rudolf, G  Therese Bihoreau, M  F Godfrey, R  P Wilder, S  D Cox, R  Lathrop, M  Marescaux, C  Gauguier, D 
Citation: Rudolf G, etal., Epilepsia 2004 Apr;45(4):301-8.
RGD ID: 1553898
Pubmed: PMID:15030491   (View Abstract at PubMed)
DOI: DOI:10.1111/j.0013-9580.2004.50303.x   (Journal Full-text)

PURPOSE: Generalized nonconvulsive absence seizures are characterized by the occurrence of synchronous and bilateral spike-and-wave discharges (SWDs) on electroencephalographic recordings, concomitant with behavioral arrest. The GAERS (genetic absence rats from Strasbourg) strain, a well-characterized inbred model for idiopathic generalized epilepsy, spontaneously develops EEG paroxysms that resemble those of typical absence seizures. The purpose of this study was to investigate the genetic control of SWD variables by using a combination of genetic analyses and electrophysiological measurements in an experimental cross derived from GAERS and Brown Norway (BN) rats. METHODS: SWD subphenotypes were quantified on EEG recordings performed at both 3 and 6 months in a cohort of 118 GAERS x BN F2 animals. A genome-wide scan of the F2 progenies was carried out with 146 microsatellite markers that were used to test each marker locus for evidence of genetic linkage to the SWD quantitative traits. RESULTS: We identified three quantitative trait loci (QTLs) in chromosomes 4, 7, and 8 controlling specific SWD variables in the cross, including frequency, amplitude, and severity of SWDs. Age was a major factor influencing the detection of genetic linkage to the various components of the SWDs. CONCLUSIONS: The identification of these QTLs demonstrates the polygenic control of SWDs in the GAERS strain. Genetic linkages to specific SWD features underline the complex mechanisms contributing to SWD development in idiopathic generalized epilepsy.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
Swd3Ratchildhood absence epilepsy  IAGP  RGD 
Swd4Ratchildhood absence epilepsy  IAGP  RGD 
Swd5Ratchildhood absence epilepsy  IAGP  RGD 

Phenotype Annotations    Click to see Annotation Detail View

Mammalian Phenotype

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
Swd3Ratabsence seizures  IAGP  RGD 
Swd4Ratabsence seizures  IAGP  RGD 
Swd5Ratabsence seizures  IAGP  RGD 

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Objects Annotated

QTLs
Swd3  (Spike wave discharge measurement QTL 3)
Swd4  (Spike wave discharge measurement QTL 4)
Swd5  (Spike wave discharge measurement QTL 5)

Strains
BN/OrlIcoCrlf  (NA)
GAERS/Mave  (Genetic Absence Epilepsy Rats from Strasbourg)

Objects referenced in this article
Strain NE/Mave null Rattus norvegicus

Additional Information