15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

Ingo Helbig; Heather C Mefford; Andrew J Sharp; Michel Guipponi; Marco Fichera; Andre Franke; Hiltrud Muhle; Carolien de Kovel; Carl Baker; Sarah von Spiczak; Katherine L Kron; Ines Steinich; Ailing A Kleefuss-Lie; Costin Leu; Verena Gaus; Bettina Schmitz; Karl M Klein; Philipp S Reif; Felix Rosenow; Yvonne Weber; Holger Lerche; Fritz Zimprich; Lydia Urak; Karoline Fuchs; Martha Feucht; Pierre Genton; Pierre Thomas; Frank Visscher; Gerrit-Jan de Haan; Rikke S Møller; Helle Hjalgrim; Daniela Luciano; Michael Wittig; Michael Nothnagel; Christian E Elger; Peter Nürnberg; Corrado Romano; Alain Malafosse; Bobby P C Koeleman; Dick Lindhout; Ulrich Stephani; Stefan Schreiber; Evan E Eichler; Thomas Sander

doi:10.1038/ng.292

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

Ingo Helbig, Heather C Mefford, Andrew J Sharp, Michel Guipponi, Marco Fichera, Andre Franke, Hiltrud Muhle, Carolien de Kovel, Carl Baker, Sarah von Spiczak, Katherine L Kron, Ines Steinich, Ailing A Kleefuss-Lie, Costin Leu, Verena Gaus, Bettina Schmitz, Karl M Klein, Philipp S Reif, Felix Rosenow, Yvonne WeberHolger Lerche, Fritz Zimprich, Lydia Urak, Karoline Fuchs, Martha Feucht, Pierre Genton, Pierre Thomas, Frank Visscher, Gerrit-Jan de Haan, Rikke S Møller, Helle Hjalgrim, Daniela Luciano, Michael Wittig, Michael Nothnagel, Christian E Elger, Peter Nürnberg, Corrado Romano, Alain Malafosse, Bobby P C Koeleman, Dick Lindhout, Ulrich Stephani, Stefan Schreiber, Evan E Eichler, Thomas Sander

Medical Genetics Program

439 Citations (Scopus)

Abstract

We identified 15q13.3 microdeletions encompassing the CHRNA7 gene in 12 of 1,223 individuals with idiopathic generalized epilepsy (IGE), which were not detected in 3,699 controls (joint P = 5.32 x 10(-8)). Most deletion carriers showed common IGE syndromes without other features previously associated with 15q13.3 microdeletions, such as intellectual disability, autism or schizophrenia. Our results indicate that 15q13.3 microdeletions constitute the most prevalent risk factor for common epilepsies identified to date.

Original language	English
Journal	Nature Genetics
Volume	41
Issue number	2
Pages (from-to)	160-2
Number of pages	2
ISSN	1061-4036
DOIs	https://doi.org/10.1038/ng.292
Publication status	Published - 2009

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Helbig, I., Mefford, H. C., Sharp, A. J., Guipponi, M., Fichera, M., Franke, A., Muhle, H., de Kovel, C., Baker, C., von Spiczak, S., Kron, K. L., Steinich, I., Kleefuss-Lie, A. A., Leu, C., Gaus, V., Schmitz, B., Klein, K. M., Reif, P. S., Rosenow, F., ... Sander, T. (2009). 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nature Genetics, 41(2), 160-2. https://doi.org/10.1038/ng.292

Helbig, I, Mefford, HC, Sharp, AJ, Guipponi, M, Fichera, M, Franke, A, Muhle, H, de Kovel, C, Baker, C, von Spiczak, S, Kron, KL, Steinich, I, Kleefuss-Lie, AA, Leu, C, Gaus, V, Schmitz, B, Klein, KM, Reif, PS, Rosenow, F, Weber, Y, Lerche, H, Zimprich, F, Urak, L, Fuchs, K, Feucht, M, Genton, P, Thomas, P, Visscher, F, de Haan, G-J, Møller, RS, Hjalgrim, H, Luciano, D, Wittig, M, Nothnagel, M, Elger, CE, Nürnberg, P, Romano, C, Malafosse, A, Koeleman, BPC, Lindhout, D, Stephani, U, Schreiber, S, Eichler, EE & Sander, T 2009, '15q13.3 microdeletions increase risk of idiopathic generalized epilepsy', Nature Genetics, vol. 41, no. 2, pp. 160-2. https://doi.org/10.1038/ng.292

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title = "15q13.3 microdeletions increase risk of idiopathic generalized epilepsy",

abstract = "We identified 15q13.3 microdeletions encompassing the CHRNA7 gene in 12 of 1,223 individuals with idiopathic generalized epilepsy (IGE), which were not detected in 3,699 controls (joint P = 5.32 x 10(-8)). Most deletion carriers showed common IGE syndromes without other features previously associated with 15q13.3 microdeletions, such as intellectual disability, autism or schizophrenia. Our results indicate that 15q13.3 microdeletions constitute the most prevalent risk factor for common epilepsies identified to date.",

author = "Ingo Helbig and Mefford, {Heather C} and Sharp, {Andrew J} and Michel Guipponi and Marco Fichera and Andre Franke and Hiltrud Muhle and {de Kovel}, Carolien and Carl Baker and {von Spiczak}, Sarah and Kron, {Katherine L} and Ines Steinich and Kleefuss-Lie, {Ailing A} and Costin Leu and Verena Gaus and Bettina Schmitz and Klein, {Karl M} and Reif, {Philipp S} and Felix Rosenow and Yvonne Weber and Holger Lerche and Fritz Zimprich and Lydia Urak and Karoline Fuchs and Martha Feucht and Pierre Genton and Pierre Thomas and Frank Visscher and {de Haan}, Gerrit-Jan and M{\o}ller, {Rikke S} and Helle Hjalgrim and Daniela Luciano and Michael Wittig and Michael Nothnagel and Elger, {Christian E} and Peter N{\"u}rnberg and Corrado Romano and Alain Malafosse and Koeleman, {Bobby P C} and Dick Lindhout and Ulrich Stephani and Stefan Schreiber and Eichler, {Evan E} and Thomas Sander",

note = "Keywords: Adolescent; Adult; Case-Control Studies; Child; Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 15; Comparative Genomic Hybridization; Epilepsy, Generalized; Female; Genetic Predisposition to Disease; Humans; Male; Receptors, Nicotinic; Risk Factors; Young Adult",

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AU - Helbig, Ingo

AU - Mefford, Heather C

AU - Sharp, Andrew J

AU - Guipponi, Michel

AU - Fichera, Marco

AU - Franke, Andre

AU - Muhle, Hiltrud

AU - de Kovel, Carolien

AU - Baker, Carl

AU - von Spiczak, Sarah

AU - Kron, Katherine L

AU - Steinich, Ines

AU - Kleefuss-Lie, Ailing A

AU - Leu, Costin

AU - Gaus, Verena

AU - Schmitz, Bettina

AU - Klein, Karl M

AU - Reif, Philipp S

AU - Rosenow, Felix

AU - Weber, Yvonne

AU - Lerche, Holger

AU - Zimprich, Fritz

AU - Urak, Lydia

AU - Fuchs, Karoline

AU - Feucht, Martha

AU - Genton, Pierre

AU - Thomas, Pierre

AU - Visscher, Frank

AU - de Haan, Gerrit-Jan

AU - Møller, Rikke S

AU - Hjalgrim, Helle

AU - Luciano, Daniela

AU - Wittig, Michael

AU - Nothnagel, Michael

AU - Elger, Christian E

AU - Nürnberg, Peter

AU - Romano, Corrado

AU - Malafosse, Alain

AU - Koeleman, Bobby P C

AU - Lindhout, Dick

AU - Stephani, Ulrich

AU - Schreiber, Stefan

AU - Eichler, Evan E

AU - Sander, Thomas

N1 - Keywords: Adolescent; Adult; Case-Control Studies; Child; Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 15; Comparative Genomic Hybridization; Epilepsy, Generalized; Female; Genetic Predisposition to Disease; Humans; Male; Receptors, Nicotinic; Risk Factors; Young Adult

PY - 2009

Y1 - 2009

N2 - We identified 15q13.3 microdeletions encompassing the CHRNA7 gene in 12 of 1,223 individuals with idiopathic generalized epilepsy (IGE), which were not detected in 3,699 controls (joint P = 5.32 x 10(-8)). Most deletion carriers showed common IGE syndromes without other features previously associated with 15q13.3 microdeletions, such as intellectual disability, autism or schizophrenia. Our results indicate that 15q13.3 microdeletions constitute the most prevalent risk factor for common epilepsies identified to date.

AB - We identified 15q13.3 microdeletions encompassing the CHRNA7 gene in 12 of 1,223 individuals with idiopathic generalized epilepsy (IGE), which were not detected in 3,699 controls (joint P = 5.32 x 10(-8)). Most deletion carriers showed common IGE syndromes without other features previously associated with 15q13.3 microdeletions, such as intellectual disability, autism or schizophrenia. Our results indicate that 15q13.3 microdeletions constitute the most prevalent risk factor for common epilepsies identified to date.

U2 - 10.1038/ng.292

DO - 10.1038/ng.292

M3 - Journal article

C2 - 19136953

SN - 1061-4036

VL - 41

SP - 160

EP - 162

JO - Nature: New biology

JF - Nature: New biology

IS - 2

ER -

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

Abstract

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