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Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency.
Arsov, Todor; Mullen, Saul A; Damiano, John A; Lawrence, Kate M; Huh, Linda L; Nolan, Melinda; Young, Helen; Thouin, Anaïs; Dahl, Hans-Henrik M; Berkovic, Samuel F; Crompton, Douglas E; Sadleir, Lynette G; Scheffer, Ingrid E.
Afiliación
  • Arsov T; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Victoria, Australia.
Epilepsia ; 53(12): e204-7, 2012 Dec.
Article en En | MEDLINE | ID: mdl-23106342
Glucose transporter 1 (GLUT1) deficiency caused by mutations of SLC2A1 is an increasingly recognized cause of genetic generalized epilepsy. We previously reported that >10% (4 of 34) of a cohort with early onset absence epilepsy (EOAE) had GLUT1 deficiency. This study uses a new cohort of 55 patients with EOAE to confirm that finding. Patients with typical absence seizures beginning before 4 years of age were screened for solute carrier family 2 (facilitated glucose transporter), member 1 (SLC2A1) mutations or deletions. All had generalized spike-waves on electroencephalography (EEG). Those with tonic and/or atonic seizures were excluded. Mutations were found in 7 (13%) of 55 cases, including five missense mutations, an in-frame deletion leading to loss of a single amino acid, and a deletion spanning two exons. Over both studies, 11 (12%) of 89 probands with EOAE have GLUT1 deficiency. Given the major treatment and genetic counseling implications, this study confirms that SLC2A1 mutational analysis should be strongly considered in EOAE.
Asunto(s)

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Errores Innatos del Metabolismo de los Carbohidratos / Epilepsia Tipo Ausencia / Mutación Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Idioma: En Revista: Epilepsia Año: 2012 Tipo del documento: Article

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Errores Innatos del Metabolismo de los Carbohidratos / Epilepsia Tipo Ausencia / Mutación Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Idioma: En Revista: Epilepsia Año: 2012 Tipo del documento: Article