Standard
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. / Helbig, Ingo; Mefford, Heather C; Sharp, Andrew J; Guipponi, Michel; Fichera, Marco; Franke, Andre; Muhle, Hiltrud; de Kovel, Carolien; Baker, Carl; von Spiczak, Sarah; Kron, Katherine L; Steinich, Ines; Kleefuss-Lie, Ailing A; Leu, Costin; Gaus, Verena; Schmitz, Bettina; Klein, Karl M; Reif, Philipp S; Rosenow, Felix; Weber, Yvonne; Lerche, Holger; Zimprich, Fritz; Urak, Lydia; Fuchs, Karoline; Feucht, Martha; Genton, Pierre; Thomas, Pierre; Visscher, Frank; de Haan, Gerrit-Jan; Møller, Rikke S; Hjalgrim, Helle; Luciano, Daniela; Wittig, Michael; Nothnagel, Michael; Elger, Christian E; Nürnberg, Peter; Romano, Corrado; Malafosse, Alain; Koeleman, Bobby P C; Lindhout, Dick; Stephani, Ulrich; Schreiber, Stefan; Eichler, Evan E; Sander, Thomas.
In:
Nature Genetics, Vol. 41, No. 2, 2009, p. 160-2.
Research output: Contribution to journal › Journal article › Research › peer-review
Harvard
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.292APA
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.292Vancouver
Helbig I, Mefford HC, Sharp AJ, Guipponi M, Fichera M, Franke A et al.
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy.
Nature Genetics. 2009;41(2):160-2.
https://doi.org/10.1038/ng.292Author
Helbig, Ingo ; Mefford, Heather C ; Sharp, Andrew J ; Guipponi, Michel ; Fichera, Marco ; Franke, Andre ; Muhle, Hiltrud ; de Kovel, Carolien ; Baker, Carl ; von Spiczak, Sarah ; Kron, Katherine L ; Steinich, Ines ; Kleefuss-Lie, Ailing A ; Leu, Costin ; Gaus, Verena ; Schmitz, Bettina ; Klein, Karl M ; Reif, Philipp S ; Rosenow, Felix ; Weber, Yvonne ; Lerche, Holger ; Zimprich, Fritz ; Urak, Lydia ; Fuchs, Karoline ; Feucht, Martha ; Genton, Pierre ; Thomas, Pierre ; Visscher, Frank ; de Haan, Gerrit-Jan ; Møller, Rikke S ; Hjalgrim, Helle ; Luciano, Daniela ; Wittig, Michael ; Nothnagel, Michael ; Elger, Christian E ; Nürnberg, Peter ; Romano, Corrado ; Malafosse, Alain ; Koeleman, Bobby P C ; Lindhout, Dick ; Stephani, Ulrich ; Schreiber, Stefan ; Eichler, Evan E ; Sander, Thomas. / 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. In: Nature Genetics. 2009 ; Vol. 41, No. 2. pp. 160-2.
Bibtex
@article{64833ff0040e11deb05e000ea68e967b,
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",
year = "2009",
doi = "10.1038/ng.292",
language = "English",
volume = "41",
pages = "160--2",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "nature publishing group",
number = "2",
}
RIS
TY - JOUR
T1 - 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
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
VL - 41
SP - 160
EP - 162
JO - Nature Genetics
JF - Nature Genetics
SN - 1061-4036
IS - 2
ER -
