title: Do Glut1 (glucose transporter type 1) defects exist in epilepsy patients responding to a ketogenic diet?
abstract: In the recent years, several neurological syndromes related to defects of the glucose transporter type 1 (Glut1) have been descried. They include the glucose transporter deficiency syndrome (Glut1-DS) as the most severe form, the paroxysmal exertion-induced dyskinesia (PED), a form of spastic paraparesis (CSE) as well as the childhood (CAE) and the early-onset absence epilepsy (EOAE). Glut1, encoded by the gene SLC2A1, is the most relevant glucose transporter in the brain. All Glut1 syndromes respond well to a ketogenic diet (KD) and most of the patients show a rapid seizure control. Ketogenic Diet developed to an established treatment for other forms of pharmaco-resistant epilepsies. Since we were interested in the question if those patients might have an underlying Glut1 defect, we sequenced SLC2A1 in a cohort of 28 patients with different forms of pharmaco-resistant epilepsies responding well to a KD. Unfortunately, we could not detect any mutations in SLC2A1. The exact action mechanisms of KD in pharmaco-resistant epilepsy are not well understood, but bypassing the Glut1 transporter seems not to play an important role.
authors.affiliation: Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany. Electronic address: felicitas.becker@uni-tuebingen.de.
authors.forename: Felicitas
authors.initials: F
authors.lastname: Becker
authors.affiliation: Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany. Electronic address: julian.schubert@uni-tuebingen.de.
authors.forename: Julian
authors.initials: J
authors.lastname: Schubert
authors.affiliation: Neurogenetics Group, Department of Molecular Genetics, VIB and Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium; Epilepsy Centre Kempenhaeghe, Oosterhout, The Netherlands. Electronic address: sarahweck@hotmail.com.
authors.forename: Sarah
authors.initials: S
authors.lastname: Weckhuysen
authors.affiliation: Neurogenetics Group, Department of Molecular Genetics, VIB and Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium; Epilepsy Centre Kempenhaeghe, Oosterhout, The Netherlands. Electronic address: arvid.suls@ua.ac.be.
authors.forename: Arvid
authors.initials: A
authors.lastname: Suls
authors.affiliation: Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany. Electronic address: steffen.grueninger@t-online.de.
authors.forename: Steffen
authors.initials: S
authors.lastname: Grüninger
authors.affiliation: Epilepsy Centre Bethel, Bielefeld, Germany. Electronic address: kornmerker@klinikhochried.de.
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Korn-Merker
authors.affiliation: Epilepsy Centre Bethel, Bielefeld, Germany.
authors.forename: Anne
authors.initials: A
authors.lastname: Hofmann-Peters
authors.affiliation: Department of Pediatrics, University of Luebeck, Luebeck, Germany. Electronic address: sperner@neuropaediatrie-luebeck.de.
authors.forename: Jürgen
authors.initials: J
authors.lastname: Sperner
authors.affiliation: AG UCL-Institute of Child Health, Great Ormond Street Hospital, London, UK; National Centre for Young people with Epilepsy, Lingfield, UK. Electronic address: h.cross@ich.ucl.ac.uk.
authors.forename: Helen
authors.initials: H
authors.lastname: Cross
authors.affiliation: Department of Epileptology and Life&Brain Centre, University of Bonn, Bonn, Germany. Electronic address: kerstin.hallmann@ukb.uni-bonn.de.
authors.forename: Kerstin
authors.initials: K
authors.lastname: Hallmann
authors.affiliation: Department of Epileptology and Life&Brain Centre, University of Bonn, Bonn, Germany. Electronic address: christian.elger@ukb.uni-bonn.de.
authors.forename: Christian E
authors.initials: CE
authors.lastname: Elger
authors.affiliation: Department of Epileptology and Life&Brain Centre, University of Bonn, Bonn, Germany. Electronic address: wolfram.kunz@ukb.uni-bonn.de.
authors.forename: Wolfram S
authors.initials: WS
authors.lastname: Kunz
authors.affiliation: Department of Neuropediatrics, Filderklinik, Filderstadt-Bonlanden, Germany. Electronic address: r.madeleyn@filderklinik.de.
authors.forename: René
authors.initials: R
authors.lastname: Madeleyen
authors.affiliation: Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany. Electronic address: holger.lerche@uni-tuebingen.de.
authors.forename: Holger
authors.initials: H
authors.lastname: Lerche
authors.affiliation: Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany. Electronic address: yvonne.weber@uni-tuebingen.de.
authors.forename: Yvonne G
authors.initials: YG
authors.lastname: Weber
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D055423:Diet, Ketogenic; D000069279:Drug Resistant Epilepsy / Q000178:diet therapy / Q000235:genetics; D004827:Epilepsy / Q000178:diet therapy* / Q000235:genetics*; D005260:Female; D051272:Glucose Transporter Type 1 / Q000172:deficiency / Q000235:genetics* / Q000378:metabolism*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D055815:Young Adult
chemical_list: D051272:Glucose Transporter Type 1; C495677:SLC2A1 protein, human
keywords: Antiepileptic drugs; Epilepsy; Genetics; Glut1 deficiency syndrome; Pharmacoresistance; SLC2A1