Refractory absence epilepsy associated with GLUT-1 deficiency syndrome.

Hdl Handle:
http://hdl.handle.net/10147/136392
Title:
Refractory absence epilepsy associated with GLUT-1 deficiency syndrome.
Authors:
Byrne, Susan; Kearns, Jacinta; Carolan, Ray; Mc Menamin, Joseph; Klepper, Joerg; Webb, David
Affiliation:
Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland.
Citation:
Refractory absence epilepsy associated with GLUT-1 deficiency syndrome. 2011, 52 (5):1021-4 Epilepsia
Journal:
Epilepsia
Issue Date:
May-2011
URI:
http://hdl.handle.net/10147/136392
DOI:
10.1111/j.1528-1167.2011.02989.x
PubMed ID:
21366555
Additional Links:
http://www.ncbi.nlm.nih.gov/pubmed/21366555
Abstract:
GLUT-1 deficiency syndrome (GLUT-1 DS) is a disorder of cerebral glucose transport associated with early infantile epilepsy and microcephaly. We report two boys who presented with refractory absence epilepsy associated with hypoglycorrhachia, both of whom have genetically confirmed GLUT-1 DS. We propose that these children serve to expand the phenotype of GLUT-1 DS and suggest that this condition should be considered as a cause of refractory absence seizures in childhood.
Item Type:
Article
Language:
en
MeSH:
Adolescent; Anticonvulsants; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Comorbidity; Drug Resistance; Electroencephalography; Epilepsy, Absence; Glucose Transporter Type 1; Humans; Male; Microcephaly; Monosaccharide Transport Proteins; Phenotype
ISSN:
1528-1167

Full metadata record

DC FieldValue Language
dc.contributor.authorByrne, Susanen
dc.contributor.authorKearns, Jacintaen
dc.contributor.authorCarolan, Rayen
dc.contributor.authorMc Menamin, Josephen
dc.contributor.authorKlepper, Joergen
dc.contributor.authorWebb, Daviden
dc.date.accessioned2011-07-20T09:13:15Z-
dc.date.available2011-07-20T09:13:15Z-
dc.date.issued2011-05-
dc.identifier.citationRefractory absence epilepsy associated with GLUT-1 deficiency syndrome. 2011, 52 (5):1021-4 Epilepsiaen
dc.identifier.issn1528-1167-
dc.identifier.pmid21366555-
dc.identifier.doi10.1111/j.1528-1167.2011.02989.x-
dc.identifier.urihttp://hdl.handle.net/10147/136392-
dc.description.abstractGLUT-1 deficiency syndrome (GLUT-1 DS) is a disorder of cerebral glucose transport associated with early infantile epilepsy and microcephaly. We report two boys who presented with refractory absence epilepsy associated with hypoglycorrhachia, both of whom have genetically confirmed GLUT-1 DS. We propose that these children serve to expand the phenotype of GLUT-1 DS and suggest that this condition should be considered as a cause of refractory absence seizures in childhood.-
dc.language.isoenen
dc.relation.urlhttp://www.ncbi.nlm.nih.gov/pubmed/21366555en
dc.subject.meshAdolescent-
dc.subject.meshAnticonvulsants-
dc.subject.meshCarbohydrate Metabolism, Inborn Errors-
dc.subject.meshChild-
dc.subject.meshChild, Preschool-
dc.subject.meshComorbidity-
dc.subject.meshDrug Resistance-
dc.subject.meshElectroencephalography-
dc.subject.meshEpilepsy, Absence-
dc.subject.meshGlucose Transporter Type 1-
dc.subject.meshHumans-
dc.subject.meshMale-
dc.subject.meshMicrocephaly-
dc.subject.meshMonosaccharide Transport Proteins-
dc.subject.meshPhenotype-
dc.titleRefractory absence epilepsy associated with GLUT-1 deficiency syndrome.en
dc.typeArticleen
dc.contributor.departmentOur Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland.en
dc.identifier.journalEpilepsiaen
dc.description.provinceLeinster-

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