The DOI matches its Crossref record; 19 of the 21 references it cites were found in a registry or an index.
Glucose Transporter 1 Deficiency as a Treatable Cause of Myoclonic Astatic Epilepsy
Open accessAbstract
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.
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“Heterozygous LOF variants in SLC2A1 encoding GLUT1, the major glucose transporter at the blood-brain barrier, cause early onset absence epilepsy, ataxia, epilepsy with myoclonic-atonic seizures, and exercise-induced dyskinesia 93 .”
From Developmental and epileptic encephalopathies (2024) · cites this paper as [93]
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Metadata
- Authors
- 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.
- Affiliations
- The University of Melbourne (AU)
- Royal Children's Hospital (AU)
- Corresponding author
- Guerrini, Renzo
- ORCID
- Venue
- Archives of Neurology
- Publisher
- American Medical Association (AMA)
- Published
- 2011-09-01
- Volume
- 68
- Issue
- 9
- Pages
- 1152
- ISSN
- 0003-9942 (ISSN-L)
- OpenAlex
- W2133660627
- Cited by
- 138
- References
- 21
- Citations by year
- 2026: 5 · 2025: 4 · 2024: 4 · 2023: 2 · 2022: 7 · 2021: 6 · 2020: 7 · 2019: 10 · 2018: 11 · 2017: 15 · 2016: 12 · 2015: 12 · 2014: 18 · 2013: 10 · 2012: 11
- FWCI
- 9.18
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Archives of Neurology (publishedVersion)
- PubMed (publishedVersion)
- Florence Research (University of Florence) (submittedVersion)
- INFM-OAR (INFN Catania) (submittedVersion, other-oa)
- Zenodo (CERN European Organization for Nuclear Research) (other-oa)
- Funders
- American Epilepsy Society
- Jack Brockhoff Foundation
- Danish Cancer Society Research Center
- European Commission
- University of Melbourne
- Vlaamse regering
- Epilepsy Society
- Shepherd Foundation
- Medical Research Council
- National Health and Medical Research Council
- Health Research Council of New Zealand
- Topics
- Health Sciences › Medicine › Clinical Neurology › Epilepsy research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Glycogen Storage Diseases and Myoclonus
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- myoclonic-astatic epilepsy, GLUT1 deficiency syndrome, glucose transporter 1, ketogenic diet, genetic diagnosis
- MeSH terms
- Adolescent, Adult, Child, Child, Preschool, Epilepsies, Myoclonic, Humans, Male, Mutation, Severity of Illness Index, Cohort Studies, Treatment Outcome, Glucose Transporter Type 1, Diet, Ketogenic
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