GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy.
Objective: The idiopathic generalized epilepsies (IGE) are the most common genetically determined epilepsies. However, the underlying genes are largely unknown. We screened the SLC2A1 gene, encoding the glucose transporter type 1 (GLUT1), for mutations in a group of 95 European patients with familia...
| Publicado en: | Neurology Vol. 78; no. 8; pp. 557 - 563 |
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| Autores principales: | , , , , , , , , , , , , , , , , , , , |
| Formato: | research Journal Article |
| Publicado: |
Lippincott Williams & Wilkins
2/21/2012
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=108173530&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 108173530 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 00283878 NRO jtl: Neurology issn: 00283878 maglogo: N pubinfo: dt: 2/21/2012 vid: 78 iid: 8 pid: 433 pub: Lippincott Williams & Wilkins place: Baltimore, Maryland artinfo: ui: 108173530 108173530 NLM22282645 2011504498 10.1212/WNL.0b013e318247ff54 NLM22282645 108173530 ppf: 557 ppct: 6 formats: tig: atl: GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy. aug: au: Striano P Weber YG Toliat MR Schubert J Leu C Chaimana R Baulac S Guerrero R LeGuern E Lehesjoki AE Polvi A Robbiano A Serratosa JM Guerrini R Nürnberg P Sander T Zara F Lerche H Marini C Striano, P affil: Muscular and Neurodegenerative Diseases Unit, G. Gaslini Institute, University of Genova, Genova, Italy sug: subj: Epilepsy Carrier Proteins Mutation Alleles Child Child, Preschool Female Genotype Human Male Pedigree Phenotype Young Adult Child: 6-12 years Child, Preschool: 2-5 years Female Male ab: Objective: The idiopathic generalized epilepsies (IGE) are the most common genetically determined epilepsies. However, the underlying genes are largely unknown. We screened the SLC2A1 gene, encoding the glucose transporter type 1 (GLUT1), for mutations in a group of 95 European patients with familial IGE.Methods: The affected individuals were examined clinically by EEG and brain imaging. The coding regions of SLC2A1 were sequenced in the index cases of all families. Wild-type and mutant transporters were expressed and functionally characterized in Xenopus laevis oocytes.Results: We detected a novel nonsynonymous SLC2A1 mutation (c.694C>T, p.R232C) in one IGE family. Nine family members were affected mainly by absence epilepsies with a variable age at onset, from early childhood to adulthood. Childhood absence epilepsy in one individual evolved into juvenile myoclonic epilepsy. Eight affected and 4 unaffected individuals carried the mutation, revealing a reduced penetrance of 67%. The detected mutation was not found in 846 normal control subjects. Functional analysis revealed a reduced maximum uptake velocity for glucose, whereas the affinity to glucose and the protein expression were not different in wild-type and mutant transporters.Conclusion: Our study shows that GLUT1 defects are a rare cause of classic IGE. SLC2A1 screening should be considered in IGE featuring absence epilepsies with onset from early childhood to adult life, because this diagnosis may have important implications for treatment and genetic counseling. pubtype: Academic Journal doctype: research Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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