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Arch Neurol. 2011 Sep;68(9):1152-5. doi: 10.1001/archneurol.2011.102. Epub 2011 May 9.

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

Author information

1
Epilepsy Research Centre, Department of Medicine, University of Melbourne, Melbourne, Australia.

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 SLC2A1 on sequencing. Multiplex ligation-dependent probe amplification analysis did not 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.

PMID:
21555602
DOI:
10.1001/archneurol.2011.102
[Indexed for MEDLINE]
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