Objective: To determine if a significant proportion of patients with myoclonic-asta tic epilepsy (MAE) have glucose transporter 1 (GLUT1) deficiency. Design: Genetic analysis. Setting: Ambulatory and hospitalized care. Patients: Eighty-four unrelated probands with MAE were phenotyped and SLC2A1 was sequenced and analyzed by multiplex ligation-dependent probe amplification. Any identified mutations were then screened in controls.
Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy / Mullen SA; Marini C; Suls A; Mei D; Della Giustina E; Buti D; Arsov T; Damiano J; Lawrence K; De Jonghe P; Berkovic SF; Scheffer IE; Guerrini R. - In: ARCHIVES OF NEUROLOGY. - ISSN 0003-9942. - STAMPA. - 68(9):(2011), pp. 1152-1155. [10.1001/archneurol.2011.102]
Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy
Marini C;GUERRINI, RENZO
2011
Abstract
Objective: To determine if a significant proportion of patients with myoclonic-asta tic epilepsy (MAE) have glucose transporter 1 (GLUT1) deficiency. Design: Genetic analysis. Setting: Ambulatory and hospitalized care. Patients: Eighty-four unrelated probands with MAE were phenotyped and SLC2A1 was sequenced and analyzed by multiplex ligation-dependent probe amplification. Any identified mutations were then screened in controls.
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