title: A duplication in 1q21.3 in a family with early onset and childhood absence epilepsy.
abstract: Early onset absence epilepsy (EOAE) starting before the age of 4 years constitutes a rare subgroup of the idiopathic generalized epilepsies (IGEs). A strong genetic component in IGE has been suggested by twin and family studies. We describe a boy with absence seizures starting at the age of 9 months whose parents both had childhood absence epilepsy. A 192-kb duplication in 1q21.3 was identified in the proband and his father, encompassing the gene CHRNB2 coding for the β-2 subunit of the nicotinic acetylcholine receptor and the gene ADAR coding for adenosine deaminase, an enzyme responsible for RNA editing. Both are candidate genes for seizure disorders. The duplication was not identified in 191 independent IGE patients (93 EOAE; 98 classical IGE) or in 1,157 population controls.
authors.affiliation: Department of Neuropediatrics, University Hospital Schleswig-Holstein, Campus Kiel, Christian-Albrechts-University, Kiel, Germany. Muhle@pedneuro.uni-kiel.de
authors.forename: Hiltrud
authors.initials: H
authors.lastname: Muhle
authors.forename: Ines
authors.initials: I
authors.lastname: Steinich
authors.forename: Sarah
authors.initials: S
authors.lastname: von Spiczak
authors.forename: Andre
authors.initials: A
authors.lastname: Franke
authors.forename: Yvonne
authors.initials: Y
authors.lastname: Weber
authors.forename: Holger
authors.initials: H
authors.lastname: Lerche
authors.forename: Michael
authors.initials: M
authors.lastname: Wittig
authors.forename: Simone
authors.initials: S
authors.lastname: Heidemann
authors.forename: Arvid
authors.initials: A
authors.lastname: Suls
authors.forename: Peter
authors.initials: P
authors.lastname: de Jonghe
authors.forename: Carla
authors.initials: C
authors.lastname: Marini
authors.forename: Renzo
authors.initials: R
authors.lastname: Guerrini
authors.forename: Ingrid E
authors.initials: IE
authors.lastname: Scheffer
authors.forename: Samuel F
authors.initials: SF
authors.lastname: Berkovic
authors.forename: Ulrich
authors.initials: U
authors.lastname: Stephani
authors.forename: Reiner
authors.initials: R
authors.lastname: Siebert
authors.forename: Thomas
authors.initials: T
authors.lastname: Sander
authors.forename: Ingo
authors.initials: I
authors.lastname: Helbig
authors.forename: Holger
authors.initials: H
authors.lastname: Tönnies
mesh_terms: D000243:Adenosine Deaminase / Q000235:genetics; D000293:Adolescent; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D004832:Epilepsy, Absence / Q000175:diagnosis / Q000235:genetics*; D004829:Epilepsy, Generalized / Q000235:genetics; D005190:Family; D005260:Female; D020440:Gene Duplication / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D016601:RNA-Binding Proteins; D011978:Receptors, Nicotinic / Q000235:genetics
chemical_list: D000243:Adenosine Deaminase; D016601:RNA-Binding Proteins; D011978:Receptors, Nicotinic; C567955:ADARB1 protein, human