Linkage and association analysis of CACNG3 in childhood absence epilepsy

Kate V. Everett; Barry Chioza; Jean Aicardi; Harald Aschauer; Oebele Brouwer; Petra Callenbach; Athanasios Covanis; Olivier Dulac; Orvar Eeg-Olofsson; Martha Feucht; Mogens Friis; Françoise Goutieres; Renzo Guerrini; Armin Heils; Marianne Kjeldsen; Anna Elina Lehesjoki; Andrew Makoff; Rima Nabbout; Ingrid Olsson; Thomas Sander; Auli Sirén; Paul McKeigue; Robert Robinson; Nichole Taske; Michele Rees; Mark Gardiner

doi:10.1038/sj.ejhg.5201783

Linkage and association analysis of CACNG3 in childhood absence epilepsy

Kate V. Everett, Barry Chioza, Jean Aicardi, Harald Aschauer, Oebele Brouwer, Petra Callenbach, Athanasios Covanis, Olivier Dulac, Orvar Eeg-Olofsson, Martha Feucht, Mogens Friis, Françoise Goutieres, Renzo Guerrini, Armin Heils, Marianne Kjeldsen, Anna Elina Lehesjoki, Andrew Makoff, Rima Nabbout, Ingrid Olsson, Thomas SanderAuli Sirén, Paul McKeigue, Robert Robinson, Nichole Taske, Michele Rees, Mark Gardiner

Fondazione Stella Maris

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

Abstract

Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy characterised by absence seizures manifested by transitory loss of awareness with 2.5-4Hz spike-wave complexes on ictal EEG. A genetic component to aetiology is established but the mechanism of inheritance and the genes involved are not fully defined. Available evidence suggests that genes encoding brain expressed voltage-gated calcium channels, including CACNG3 on chromosome 16p12-p13.1, may represent susceptibility loci for CAE. The aim of this work was to further evaluate CACNG3 as a susceptibility locus by linkage and association analysis. Assuming locus heterogeneity, a significant HLOD score (HLOD=3.54, α=0.62) was obtained for markers encompassing CACNG3 in 65 nuclear families with a proband with CAE. The maximum non-parametric linkage score was 2.87 (P

Original language	English
Pages (from-to)	463-472
Number of pages	10
Journal	European Journal of Human Genetics
Volume	15
Issue number	4
DOIs	https://doi.org/10.1038/sj.ejhg.5201783
Publication status	Published - Apr 2007

ASJC Scopus subject areas

Genetics(clinical)

Access to Document

10.1038/sj.ejhg.5201783

Fingerprint Dive into the research topics of 'Linkage and association analysis of CACNG3 in childhood absence epilepsy'. Together they form a unique fingerprint.

Cite this

Everett, K. V., Chioza, B., Aicardi, J., Aschauer, H., Brouwer, O., Callenbach, P., Covanis, A., Dulac, O., Eeg-Olofsson, O., Feucht, M., Friis, M., Goutieres, F., Guerrini, R., Heils, A., Kjeldsen, M., Lehesjoki, A. E., Makoff, A., Nabbout, R., Olsson, I., ... Gardiner, M. (2007). Linkage and association analysis of CACNG3 in childhood absence epilepsy. European Journal of Human Genetics, 15(4), 463-472. https://doi.org/10.1038/sj.ejhg.5201783

Linkage and association analysis of CACNG3 in childhood absence epilepsy. / Everett, Kate V.; Chioza, Barry; Aicardi, Jean; Aschauer, Harald; Brouwer, Oebele; Callenbach, Petra; Covanis, Athanasios; Dulac, Olivier; Eeg-Olofsson, Orvar; Feucht, Martha; Friis, Mogens; Goutieres, Françoise; Guerrini, Renzo; Heils, Armin; Kjeldsen, Marianne; Lehesjoki, Anna Elina; Makoff, Andrew; Nabbout, Rima; Olsson, Ingrid; Sander, Thomas; Sirén, Auli; McKeigue, Paul; Robinson, Robert; Taske, Nichole; Rees, Michele; Gardiner, Mark.

In: European Journal of Human Genetics, Vol. 15, No. 4, 04.2007, p. 463-472.

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

Everett, KV, Chioza, B, Aicardi, J, Aschauer, H, Brouwer, O, Callenbach, P, Covanis, A, Dulac, O, Eeg-Olofsson, O, Feucht, M, Friis, M, Goutieres, F, Guerrini, R, Heils, A, Kjeldsen, M, Lehesjoki, AE, Makoff, A, Nabbout, R, Olsson, I, Sander, T, Sirén, A, McKeigue, P, Robinson, R, Taske, N, Rees, M & Gardiner, M 2007, 'Linkage and association analysis of CACNG3 in childhood absence epilepsy', European Journal of Human Genetics, vol. 15, no. 4, pp. 463-472. https://doi.org/10.1038/sj.ejhg.5201783

Everett, Kate V. ; Chioza, Barry ; Aicardi, Jean ; Aschauer, Harald ; Brouwer, Oebele ; Callenbach, Petra ; Covanis, Athanasios ; Dulac, Olivier ; Eeg-Olofsson, Orvar ; Feucht, Martha ; Friis, Mogens ; Goutieres, Françoise ; Guerrini, Renzo ; Heils, Armin ; Kjeldsen, Marianne ; Lehesjoki, Anna Elina ; Makoff, Andrew ; Nabbout, Rima ; Olsson, Ingrid ; Sander, Thomas ; Sirén, Auli ; McKeigue, Paul ; Robinson, Robert ; Taske, Nichole ; Rees, Michele ; Gardiner, Mark. / Linkage and association analysis of CACNG3 in childhood absence epilepsy. In: European Journal of Human Genetics. 2007 ; Vol. 15, No. 4. pp. 463-472.

@article{aa2cafc112f843a48703d20c6542f45c,

title = "Linkage and association analysis of CACNG3 in childhood absence epilepsy",

abstract = "Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy characterised by absence seizures manifested by transitory loss of awareness with 2.5-4Hz spike-wave complexes on ictal EEG. A genetic component to aetiology is established but the mechanism of inheritance and the genes involved are not fully defined. Available evidence suggests that genes encoding brain expressed voltage-gated calcium channels, including CACNG3 on chromosome 16p12-p13.1, may represent susceptibility loci for CAE. The aim of this work was to further evaluate CACNG3 as a susceptibility locus by linkage and association analysis. Assuming locus heterogeneity, a significant HLOD score (HLOD=3.54, α=0.62) was obtained for markers encompassing CACNG3 in 65 nuclear families with a proband with CAE. The maximum non-parametric linkage score was 2.87 (P",

author = "Everett, {Kate V.} and Barry Chioza and Jean Aicardi and Harald Aschauer and Oebele Brouwer and Petra Callenbach and Athanasios Covanis and Olivier Dulac and Orvar Eeg-Olofsson and Martha Feucht and Mogens Friis and Fran{\c c}oise Goutieres and Renzo Guerrini and Armin Heils and Marianne Kjeldsen and Lehesjoki, {Anna Elina} and Andrew Makoff and Rima Nabbout and Ingrid Olsson and Thomas Sander and Auli Sir{\'e}n and Paul McKeigue and Robert Robinson and Nichole Taske and Michele Rees and Mark Gardiner",

year = "2007",

month = apr,

doi = "10.1038/sj.ejhg.5201783",

language = "English",

volume = "15",

pages = "463--472",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Nature Publishing Group",

number = "4",

}

TY - JOUR

T1 - Linkage and association analysis of CACNG3 in childhood absence epilepsy

AU - Everett, Kate V.

AU - Chioza, Barry

AU - Aicardi, Jean

AU - Aschauer, Harald

AU - Brouwer, Oebele

AU - Callenbach, Petra

AU - Covanis, Athanasios

AU - Dulac, Olivier

AU - Eeg-Olofsson, Orvar

AU - Feucht, Martha

AU - Friis, Mogens

AU - Goutieres, Françoise

AU - Guerrini, Renzo

AU - Heils, Armin

AU - Kjeldsen, Marianne

AU - Lehesjoki, Anna Elina

AU - Makoff, Andrew

AU - Nabbout, Rima

AU - Olsson, Ingrid

AU - Sander, Thomas

AU - Sirén, Auli

AU - McKeigue, Paul

AU - Robinson, Robert

AU - Taske, Nichole

AU - Rees, Michele

AU - Gardiner, Mark

PY - 2007/4

Y1 - 2007/4

N2 - Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy characterised by absence seizures manifested by transitory loss of awareness with 2.5-4Hz spike-wave complexes on ictal EEG. A genetic component to aetiology is established but the mechanism of inheritance and the genes involved are not fully defined. Available evidence suggests that genes encoding brain expressed voltage-gated calcium channels, including CACNG3 on chromosome 16p12-p13.1, may represent susceptibility loci for CAE. The aim of this work was to further evaluate CACNG3 as a susceptibility locus by linkage and association analysis. Assuming locus heterogeneity, a significant HLOD score (HLOD=3.54, α=0.62) was obtained for markers encompassing CACNG3 in 65 nuclear families with a proband with CAE. The maximum non-parametric linkage score was 2.87 (P

AB - Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy characterised by absence seizures manifested by transitory loss of awareness with 2.5-4Hz spike-wave complexes on ictal EEG. A genetic component to aetiology is established but the mechanism of inheritance and the genes involved are not fully defined. Available evidence suggests that genes encoding brain expressed voltage-gated calcium channels, including CACNG3 on chromosome 16p12-p13.1, may represent susceptibility loci for CAE. The aim of this work was to further evaluate CACNG3 as a susceptibility locus by linkage and association analysis. Assuming locus heterogeneity, a significant HLOD score (HLOD=3.54, α=0.62) was obtained for markers encompassing CACNG3 in 65 nuclear families with a proband with CAE. The maximum non-parametric linkage score was 2.87 (P

UR - http://www.scopus.com/inward/record.url?scp=33947634518&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33947634518&partnerID=8YFLogxK

U2 - 10.1038/sj.ejhg.5201783

DO - 10.1038/sj.ejhg.5201783

M3 - Article

C2 - 17264864

AN - SCOPUS:33947634518

VL - 15

SP - 463

EP - 472

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

SN - 1018-4813

IS - 4

ER -