15q13.3 microdeletions increase risk of idiopathic generalized epilepsy.
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.
Helbig
Ingo
I
Department of Neuropediatrics, University Medical Center Schleswig-Holstein (Kiel Campus), Schwanenweg 20, 24105 Kiel, Germany.
Mefford
Heather C
HC
Sharp
Andrew J
AJ
Guipponi
Michel
M
Fichera
Marco
M
Franke
Andre
A
Muhle
Hiltrud
H
de Kovel
Carolien
C
Baker
Carl
C
von Spiczak
Sarah
S
Kron
Katherine L
KL
Steinich
Ines
I
Kleefuss-Lie
Ailing A
AA
Leu
Costin
C
Gaus
Verena
V
Schmitz
Bettina
B
Klein
Karl M
KM
Reif
Philipp S
PS
Rosenow
Felix
F
Weber
Yvonne
Y
Lerche
Holger
H
Zimprich
Fritz
F
Urak
Lydia
L
Fuchs
Karoline
K
Feucht
Martha
M
Genton
Pierre
P
Thomas
Pierre
P
Visscher
Frank
F
de Haan
Gerrit-Jan
GJ
Møller
Rikke S
RS
Hjalgrim
Helle
H
Luciano
Daniela
D
Wittig
Michael
M
Nothnagel
Michael
M
Elger
Christian E
CE
Nürnberg
Peter
P
Romano
Corrado
C
Malafosse
Alain
A
Koeleman
Bobby P C
BP
Lindhout
Dick
D
Stephani
Ulrich
U
Schreiber
Stefan
S
Eichler
Evan E
EE
Sander
Thomas
T
D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D055028:Comparative Genomic Hybridization; D004829:Epilepsy, Generalized / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D011978:Receptors, Nicotinic / Q000235:genetics; D012307:Risk Factors; D055815:Young Adult; D064569:alpha7 Nicotinic Acetylcholine Receptor
C579167:Chrna7 protein, human; D011978:Receptors, Nicotinic; D064569:alpha7 Nicotinic Acetylcholine Receptor