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

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.

• Authors: 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
• Journal: Archives of neurology (Arch Neurol) Vol. 68 Issue 9 Pg. 1152-5 (Sep 2011) ISSN: 1538-3687 [Electronic] United States
• PMID: 21555602 (Publication Type: Comparative Study, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Glucose Transporter Type 1
• SLC2A1 protein, human

Topics

• Adolescent
• Adult
• Child
• Child, Preschool
• Cohort Studies
• Diet, Ketogenic (methods)
• Epilepsies, Myoclonic (diagnosis, diet therapy, genetics)
• Glucose Transporter Type 1 (deficiency, genetics)
• Humans
• Male
• Mutation (genetics)
• Severity of Illness Index
• Treatment Outcome