Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14

Barry A. Chioza; Jean Aicardi; Harald Aschauer; Oebele Brouwer; Petra Callenbach; Athanasios Covanis; Joseph M. Dooley; Olivier Dulac; Martina Durner; Orvar Eeg-Olofsson; Martha Feucht; Mogens Laue Friis; Renzo Guerrini; Marianne Juel Kjeldsen; Rima Nabbout; Lina Nashef; Thomas Sander; Auli Siren; Elaine Wirrell; Paul McKeigue; Robert Robinson; R. Mark Gardiner; Kate V. Everett

doi:10.1016/j.eplepsyres.2009.09.010

Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14

Barry A. Chioza, Jean Aicardi, Harald Aschauer, Oebele Brouwer, Petra Callenbach, Athanasios Covanis, Joseph M. Dooley, Olivier Dulac, Martina Durner, Orvar Eeg-Olofsson, Martha Feucht, Mogens Laue Friis, Renzo Guerrini, Marianne Juel Kjeldsen, Rima Nabbout, Lina Nashef, Thomas Sander, Auli Siren, Elaine Wirrell, Paul McKeigueRobert Robinson, R. Mark Gardiner, Kate V. Everett

Research output: Contribution to journal › Article › peer-review

Abstract / Description of output

Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy (IGE) characterised by typical absence seizures manifested by transitory loss of awareness with 2.5-4 Hz spike-wave complexes on ictal EEG. A genetic component to the aetiology is wet[ recognised but the mechanism of inheritance and the genes involved are yet to be fully established.

A genome wide single nucleotide polymorphism (SNP)-based high density linkage scan was carried out using 41 nuclear pedigrees with at least two affected members. Multipoint parametric and non-parametric linkage analyses were performed using MERLIN 1.1.1 and a susceptibility locus was identified on chromosome 3p23-p14 (Z(mean) = 3.9, p < 0.0001; HLOD = 3.3, alpha = 0.7). The (inked region harbours the functional candidate genes TRAK1 and CACNA2D2. Fine-mapping using a tagSNP approach demonstrated disease association with variants in TRAK1. (C) 2009 Elsevier B.V. All rights reserved.

Original language	English
Pages (from-to)	247-255
Number of pages	9
Journal	Epilepsy research
Volume	87
Issue number	2-3
DOIs	https://doi.org/10.1016/j.eplepsyres.2009.09.010
Publication status	Published - Dec 2009

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Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14
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Chioza, B. A., Aicardi, J., Aschauer, H., Brouwer, O., Callenbach, P., Covanis, A., Dooley, J. M., Dulac, O., Durner, M., Eeg-Olofsson, O., Feucht, M., Friis, M. L., Guerrini, R., Kjeldsen, M. J., Nabbout, R., Nashef, L., Sander, T., Siren, A., Wirrell, E., ... Everett, K. V. (2009). Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14. Epilepsy research, 87(2-3), 247-255. https://doi.org/10.1016/j.eplepsyres.2009.09.010

@article{baa91f8a064b4bfbba62c2cd1c3c37a7,

title = "Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14",

abstract = "Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy (IGE) characterised by typical absence seizures manifested by transitory loss of awareness with 2.5-4 Hz spike-wave complexes on ictal EEG. A genetic component to the aetiology is wet[ recognised but the mechanism of inheritance and the genes involved are yet to be fully established.A genome wide single nucleotide polymorphism (SNP)-based high density linkage scan was carried out using 41 nuclear pedigrees with at least two affected members. Multipoint parametric and non-parametric linkage analyses were performed using MERLIN 1.1.1 and a susceptibility locus was identified on chromosome 3p23-p14 (Z(mean) = 3.9, p < 0.0001; HLOD = 3.3, alpha = 0.7). The (inked region harbours the functional candidate genes TRAK1 and CACNA2D2. Fine-mapping using a tagSNP approach demonstrated disease association with variants in TRAK1. (C) 2009 Elsevier B.V. All rights reserved.",

author = "Chioza, {Barry A.} and Jean Aicardi and Harald Aschauer and Oebele Brouwer and Petra Callenbach and Athanasios Covanis and Dooley, {Joseph M.} and Olivier Dulac and Martina Durner and Orvar Eeg-Olofsson and Martha Feucht and Friis, {Mogens Laue} and Renzo Guerrini and Kjeldsen, {Marianne Juel} and Rima Nabbout and Lina Nashef and Thomas Sander and Auli Siren and Elaine Wirrell and Paul McKeigue and Robert Robinson and Gardiner, {R. Mark} and Everett, {Kate V.}",

year = "2009",

month = dec,

doi = "10.1016/j.eplepsyres.2009.09.010",

language = "English",

volume = "87",

pages = "247--255",

journal = "Epilepsy research",

issn = "0920-1211",

publisher = "Elsevier",

number = "2-3",

}

Chioza, BA, Aicardi, J, Aschauer, H, Brouwer, O, Callenbach, P, Covanis, A, Dooley, JM, Dulac, O, Durner, M, Eeg-Olofsson, O, Feucht, M, Friis, ML, Guerrini, R, Kjeldsen, MJ, Nabbout, R, Nashef, L, Sander, T, Siren, A, Wirrell, E, McKeigue, P, Robinson, R, Gardiner, RM & Everett, KV 2009, 'Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14', Epilepsy research, vol. 87, no. 2-3, pp. 247-255. https://doi.org/10.1016/j.eplepsyres.2009.09.010

TY - JOUR

T1 - Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14

AU - Chioza, Barry A.

AU - Aicardi, Jean

AU - Aschauer, Harald

AU - Brouwer, Oebele

AU - Callenbach, Petra

AU - Covanis, Athanasios

AU - Dooley, Joseph M.

AU - Dulac, Olivier

AU - Durner, Martina

AU - Eeg-Olofsson, Orvar

AU - Feucht, Martha

AU - Friis, Mogens Laue

AU - Guerrini, Renzo

AU - Kjeldsen, Marianne Juel

AU - Nabbout, Rima

AU - Nashef, Lina

AU - Sander, Thomas

AU - Siren, Auli

AU - Wirrell, Elaine

AU - McKeigue, Paul

AU - Robinson, Robert

AU - Gardiner, R. Mark

AU - Everett, Kate V.

PY - 2009/12

Y1 - 2009/12

N2 - Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy (IGE) characterised by typical absence seizures manifested by transitory loss of awareness with 2.5-4 Hz spike-wave complexes on ictal EEG. A genetic component to the aetiology is wet[ recognised but the mechanism of inheritance and the genes involved are yet to be fully established.A genome wide single nucleotide polymorphism (SNP)-based high density linkage scan was carried out using 41 nuclear pedigrees with at least two affected members. Multipoint parametric and non-parametric linkage analyses were performed using MERLIN 1.1.1 and a susceptibility locus was identified on chromosome 3p23-p14 (Z(mean) = 3.9, p < 0.0001; HLOD = 3.3, alpha = 0.7). The (inked region harbours the functional candidate genes TRAK1 and CACNA2D2. Fine-mapping using a tagSNP approach demonstrated disease association with variants in TRAK1. (C) 2009 Elsevier B.V. All rights reserved.

AB - Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy (IGE) characterised by typical absence seizures manifested by transitory loss of awareness with 2.5-4 Hz spike-wave complexes on ictal EEG. A genetic component to the aetiology is wet[ recognised but the mechanism of inheritance and the genes involved are yet to be fully established.A genome wide single nucleotide polymorphism (SNP)-based high density linkage scan was carried out using 41 nuclear pedigrees with at least two affected members. Multipoint parametric and non-parametric linkage analyses were performed using MERLIN 1.1.1 and a susceptibility locus was identified on chromosome 3p23-p14 (Z(mean) = 3.9, p < 0.0001; HLOD = 3.3, alpha = 0.7). The (inked region harbours the functional candidate genes TRAK1 and CACNA2D2. Fine-mapping using a tagSNP approach demonstrated disease association with variants in TRAK1. (C) 2009 Elsevier B.V. All rights reserved.

U2 - 10.1016/j.eplepsyres.2009.09.010

DO - 10.1016/j.eplepsyres.2009.09.010

M3 - Article

SN - 0920-1211

VL - 87

SP - 247

EP - 255

JO - Epilepsy research

JF - Epilepsy research

IS - 2-3

ER -

Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14

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