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

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

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Abstract

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 screened in controls. Main Outcome Measure: Any SLC2A1 mutations. Results: Four of 84 probands with MAE had a mutation of SLC2A1on sequencing. Multiplexligation-dependent probe amplification analysis didnot reveal any genomic rearrangements in 75 of the remaining cases; 5 could not be tested. Two patients with MAE with SLC2A1 mutations also developed paroxysmal exertional dyskinesia in childhood. Conclusions: Five percent of our patients with MAE had SLC2A1 mutations, suggesting that patients with MAE should be tested for GLUT1 deficiency. Diagnosis of GLUT1 deficiency is a strong indication for early use of the ketogenic diet, which may substantially improve outcome of this severe disorder.

Original languageEnglish
Pages (from-to)1152-1155
Number of pages4
JournalArchives of Neurology
Volume68
Issue number9
DOIs
Publication statusPublished - Sep 2011

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ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Mullen, S. A., Marini, C., Suls, A., Mei, D., Della Giustina, E., Buti, D., Arsov, T., Damiano, J., Lawrence, K., De Jonghe, P., Berkovic, S. F., Scheffer, I. E., & Guerrini, R. (2011). Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. Archives of Neurology, 68(9), 1152-1155. https://doi.org/10.1001/archneurol.2011.102