title: The role of SLC2A1 in early onset and childhood absence epilepsies.
abstract: Early Onset Absence Epilepsy constitutes an Idiopathic Generalized Epilepsy with absences starting before the age of four years. Mutations in SLC2A1, encoding the glucose transporter, account for approximately 10% of EOAE cases. The role of SLC2A1 mutations in absence epilepsies with a later onset has not been assessed. We found two mutation carriers in 26 EOAE patients, while no mutations were found in 124 probands affected by CAE or JAE.
authors.affiliation: Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany. Muhle@pedneuro.uni-kiel.de
authors.forename: Hiltrud
authors.initials: H
authors.lastname: Muhle
authors.forename: Ingo
authors.initials: I
authors.lastname: Helbig
authors.forename: Tobias Guldberg
authors.initials: TG
authors.lastname: Frøslev
authors.forename: Arvid
authors.initials: A
authors.lastname: Suls
authors.forename: Sarah
authors.initials: S
authors.lastname: von Spiczak
authors.forename: Laura Line
authors.initials: LL
authors.lastname: Klitten
authors.forename: Hans Atli
authors.initials: HA
authors.lastname: Dahl
authors.forename: Klaus
authors.initials: K
authors.lastname: Brusgaard
authors.forename: Bernd
authors.initials: B
authors.lastname: Neubauer
authors.forename: Peter
authors.initials: P
authors.lastname: De Jonghe
authors.forename: Niels
authors.initials: N
authors.lastname: Tommerup
authors.forename: Ulrich
authors.initials: U
authors.lastname: Stephani
authors.forename: Helle
authors.initials: H
authors.lastname: Hjalgrim
authors.forename: Rikke Steensbjerre
authors.initials: RS
authors.lastname: Møller
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D001483:Base Sequence; D015331:Cohort Studies; D042241:Early Diagnosis; D004832:Epilepsy, Absence / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D051272:Glucose Transporter Type 1 / Q000235:genetics / Q000502:physiology*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D055815:Young Adult
chemical_list: D051272:Glucose Transporter Type 1; C495677:SLC2A1 protein, human