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Article

Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy.

Archives of neurology - 1 Sept 2011

Mullen Saul A, Marini Carla, Suls Arvid, Mei Davide, Della Giustina Elvio, Buti Daniela, Arsov Todor, Damiano John, Lawrence Kate, De Jonghe Peter, Berkovic Samuel F, Scheffer Ingrid E, Guerrini Renzo

Abstract excerpt

OBJECTIVE: To determine if a significant proportion of patients with myoclonic-astatic 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...

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Identifiers

PMID: 21555602
DOI: 10.1001/archneurol.2011.102

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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