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Linkage analysis between childhood absence epilepsy and genes encoding GABAA and GABAB receptors, voltage-dependent calcium channels, and the ECA1 region on chromosone 8q

Linkage analysis between childhood absence epilepsy and genes encoding GABAA and GABAB receptors, voltage-dependent calcium channels, and the ECA1 region on chromosone 8q
Linkage analysis between childhood absence epilepsy and genes encoding GABAA and GABAB receptors, voltage-dependent calcium channels, and the ECA1 region on chromosone 8q
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 well 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, GABRG3 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.
childhood absence epilepsy, GABAA, GABAB, voltage-dependent calcium channel, ECA1, genetics
0920-1211
169-179
Robinson, Robert
c4033614-642f-4ea8-802d-578a9ea4c151
Taske, Nicole
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Sander, Thomas
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Heils, Armin
b0c59f82-ee89-427a-be91-4231ba210ee5
Whitehouse, William
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Goutières, Françoise
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Aicardi, Jean
cca73552-a263-46da-9caf-e67d8fc40392
Lehesjoki, Anna-Elina
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Siren, Auli
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Laue Friis, Mogens
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Kjeldsen, Marianne Juel
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Panayiotopoulos, Chrysostomos
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Kennedy, Colin
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Ferrie, Colin
e507097a-0e2d-4217-aefe-14b97d30b82f
Rees, Michele
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Gardiner, R. Mark
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Robinson, Robert
c4033614-642f-4ea8-802d-578a9ea4c151
Taske, Nicole
b8772069-f80c-41fd-b09d-027c1d6fac50
Sander, Thomas
67a334e9-21a1-463b-ac61-db4e4acc3440
Heils, Armin
b0c59f82-ee89-427a-be91-4231ba210ee5
Whitehouse, William
5cede507-72cf-41cd-963d-1b7cce61fed5
Goutières, Françoise
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Aicardi, Jean
cca73552-a263-46da-9caf-e67d8fc40392
Lehesjoki, Anna-Elina
e53a02d3-31c4-4bdf-9762-717f650c0dde
Siren, Auli
e6b05de6-9a43-4b64-8893-7d048a34eef5
Laue Friis, Mogens
36d9c429-329e-4d8f-8cef-223ab16120e9
Kjeldsen, Marianne Juel
f286f16a-342c-4fa0-a2aa-7ab8d8f1e210
Panayiotopoulos, Chrysostomos
123a4e90-3a9f-4de8-8155-c97ce8ce2559
Kennedy, Colin
f3b81fa3-a713-4731-a1be-b532ab850a7a
Ferrie, Colin
e507097a-0e2d-4217-aefe-14b97d30b82f
Rees, Michele
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Gardiner, R. Mark
2426e06d-6d76-4feb-beca-f10c5384611f

Robinson, Robert, Taske, Nicole, Sander, Thomas, Heils, Armin, Whitehouse, William, Goutières, Françoise, Aicardi, Jean, Lehesjoki, Anna-Elina, Siren, Auli, Laue Friis, Mogens, Kjeldsen, Marianne Juel, Panayiotopoulos, Chrysostomos, Kennedy, Colin, Ferrie, Colin, Rees, Michele and Gardiner, R. Mark (2002) Linkage analysis between childhood absence epilepsy and genes encoding GABAA and GABAB receptors, voltage-dependent calcium channels, and the ECA1 region on chromosone 8q. Epilepsy Research, 48 (3), 169-179. (doi:10.1016/S0920-1211(01)00335-7).

Record type: Article

Abstract

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 well 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, GABRG3 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.

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More information

Published date: 2002
Keywords: childhood absence epilepsy, GABAA, GABAB, voltage-dependent calcium channel, ECA1, genetics

Identifiers

Local EPrints ID: 27701
URI: http://eprints.soton.ac.uk/id/eprint/27701
ISSN: 0920-1211
PURE UUID: ca92b261-2eff-402b-b8a5-1c39ab5e91ff

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Date deposited: 25 Apr 2006
Last modified: 15 Mar 2024 07:20

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Contributors

Author: Robert Robinson
Author: Nicole Taske
Author: Thomas Sander
Author: Armin Heils
Author: William Whitehouse
Author: Françoise Goutières
Author: Jean Aicardi
Author: Anna-Elina Lehesjoki
Author: Auli Siren
Author: Mogens Laue Friis
Author: Marianne Juel Kjeldsen
Author: Chrysostomos Panayiotopoulos
Author: Colin Kennedy
Author: Colin Ferrie
Author: Michele Rees
Author: R. Mark Gardiner

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