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.
authors.affiliation: Department of Neuropediatrics, University Medical Center Schleswig-Holstein (Kiel Campus), Schwanenweg 20, 24105 Kiel, Germany.
authors.forename: Ingo
authors.initials: I
authors.lastname: Helbig
authors.forename: Heather C
authors.initials: HC
authors.lastname: Mefford
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Sharp
authors.forename: Michel
authors.initials: M
authors.lastname: Guipponi
authors.forename: Marco
authors.initials: M
authors.lastname: Fichera
authors.forename: Andre
authors.initials: A
authors.lastname: Franke
authors.forename: Hiltrud
authors.initials: H
authors.lastname: Muhle
authors.forename: Carolien
authors.initials: C
authors.lastname: de Kovel
authors.forename: Carl
authors.initials: C
authors.lastname: Baker
authors.forename: Sarah
authors.initials: S
authors.lastname: von Spiczak
authors.forename: Katherine L
authors.initials: KL
authors.lastname: Kron
authors.forename: Ines
authors.initials: I
authors.lastname: Steinich
authors.forename: Ailing A
authors.initials: AA
authors.lastname: Kleefuss-Lie
authors.forename: Costin
authors.initials: C
authors.lastname: Leu
authors.forename: Verena
authors.initials: V
authors.lastname: Gaus
authors.forename: Bettina
authors.initials: B
authors.lastname: Schmitz
authors.forename: Karl M
authors.initials: KM
authors.lastname: Klein
authors.forename: Philipp S
authors.initials: PS
authors.lastname: Reif
authors.forename: Felix
authors.initials: F
authors.lastname: Rosenow
authors.forename: Yvonne
authors.initials: Y
authors.lastname: Weber
authors.forename: Holger
authors.initials: H
authors.lastname: Lerche
authors.forename: Fritz
authors.initials: F
authors.lastname: Zimprich
authors.forename: Lydia
authors.initials: L
authors.lastname: Urak
authors.forename: Karoline
authors.initials: K
authors.lastname: Fuchs
authors.forename: Martha
authors.initials: M
authors.lastname: Feucht
authors.forename: Pierre
authors.initials: P
authors.lastname: Genton
authors.forename: Pierre
authors.initials: P
authors.lastname: Thomas
authors.forename: Frank
authors.initials: F
authors.lastname: Visscher
authors.forename: Gerrit-Jan
authors.initials: GJ
authors.lastname: de Haan
authors.forename: Rikke S
authors.initials: RS
authors.lastname: Møller
authors.forename: Helle
authors.initials: H
authors.lastname: Hjalgrim
authors.forename: Daniela
authors.initials: D
authors.lastname: Luciano
authors.forename: Michael
authors.initials: M
authors.lastname: Wittig
authors.forename: Michael
authors.initials: M
authors.lastname: Nothnagel
authors.forename: Christian E
authors.initials: CE
authors.lastname: Elger
authors.forename: Peter
authors.initials: P
authors.lastname: Nürnberg
authors.forename: Corrado
authors.initials: C
authors.lastname: Romano
authors.forename: Alain
authors.initials: A
authors.lastname: Malafosse
authors.forename: Bobby P C
authors.initials: BP
authors.lastname: Koeleman
authors.forename: Dick
authors.initials: D
authors.lastname: Lindhout
authors.forename: Ulrich
authors.initials: U
authors.lastname: Stephani
authors.forename: Stefan
authors.initials: S
authors.lastname: Schreiber
authors.forename: Evan E
authors.initials: EE
authors.lastname: Eichler
authors.forename: Thomas
authors.initials: T
authors.lastname: Sander
mesh_terms: 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
chemical_list: C579167:Chrna7 protein, human; D011978:Receptors, Nicotinic; D064569:alpha7 Nicotinic Acetylcholine Receptor