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Epilepsy Res ; 114: 47-51, 2015 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-26088884

RESUMO

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.


Assuntos
Dieta Cetogênica , Epilepsia/dietoterapia , Epilepsia/genética , Transportador de Glucose Tipo 1/genética , Transportador de Glucose Tipo 1/metabolismo , Adolescente , Adulto , Criança , Pré-Escolar , Estudos de Coortes , Epilepsia Resistente a Medicamentos/dietoterapia , Epilepsia Resistente a Medicamentos/genética , Feminino , Transportador de Glucose Tipo 1/deficiência , Humanos , Masculino , Mutação/genética , Adulto Jovem
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