Robinson, R and Taske, N and Sander, T and Heils, A and Whitehouse, W and Goutieres, F and Aicardi, J and Lehesjoki, AE and Siren, A and Friis, ML and Kjeldsen, MJ and Panayiotopoulos, C and Kennedy, C and Ferrie, C and Rees, M and Gardiner, RM (2002) Linkage analysis between childhood absence epilepsy and genes encoding GABA(A) and GABA(B) receptors, voltage-dependent calcium channels, and the ECA1 region on chromosome 8q. EPILEPSY RES , 48 (3) 169 - 179.
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Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy (IGE) characterised by onset of typical absence seizures; in otherwise normal children of school age. A genetic component to aetiology is wen established but the mechanism of inheritance and the genes involved are unknown. Available evidence suggests that mutations in genes encoding GABA receptors or brain expressed voltage-dependent calcium channels (VDCCs) may underlie CAE. The aim of this work was to test this hypothesis by linkage analysis using microsatellite loci spanning theses genes in 33 nuclear families each with two or more individuals with CAE. Seventeen VDCC subunit genes, ten GABA(A)R subunit genes, two GABA(B) receptor genes and the ECA1 locus on 8q24 were investigated using 35 microsatellite loci. Assuming locus homogeneity, all loci gave statistically significant negative LOD scores, excluding these genes as major loci in the majority of these families. Positive HLOD scores assuming locus heterogeneity were observed for CACNG3 on chromosome 16p12-p13.1 and the GABRA5, GABRB3, G4BRG3 cluster on chromosome 15q11-q13. Association studies are required to determine whether these loci are the site of susceptibility alleles in a subset of patients with CAE. (C) 2002 Elsevier Science B.V. All rights reserved.
|Title:||Linkage analysis between childhood absence epilepsy and genes encoding GABA(A) and GABA(B) receptors, voltage-dependent calcium channels, and the ECA1 region on chromosome 8q|
|Keywords:||childhood absence epilepsy, GABA(A), GABA(B), voltage-dependent calcium channel, ECA1, genetics, MICE LACKING, GENERALIZED EPILEPSY, FEBRILE SEIZURES, SUBUNIT, MUTATION, ASSOCIATION, GENETICS, MOUSE, GAMMA-2-SUBUNIT, CONSTRUCTION|
|UCL classification:||UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Child Health|
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