Journal article
Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy
SA Mullen, C Marini, A Suls, D Mei, E Della Giustina, D Buti, T Arsov, J Damiano, K Lawrence, P De Jonghe, SF Berkovic, IE Scheffer, R Guerrini
Archives of Neurology | Published : 2011
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 test..
View full abstractGrants
Funding Acknowledgements
Dr Berkovic has served on scientific advisory boards for UCB and Janssen-Cilag EMEA; has received funding for travel and honoraria from UCB; serves/has served on the editorial boards of Brain and Epileptic Disorders; and has received research support from UCB, the National Health and Medical Research Council of Australia, and the American Epilepsy Society. Dr Scheffer has served an scientific advisory boards for UCB and Janssen-Cilag EMEA; serves on the editorial boards of the Annals of Neurology and Epileptic Disorders; may accrue future revenue on pending patent WO61/010176 (filed in 2008): Therapeutic Compound; has received speaker honoraria from Athena Diagnostics, UCB, Janssen-Cilag EMEA, and Eli Lilly and Company; has received funding for travel from Athena Diagnostics, UCB, and Janssen-Cilag EMEA; and receives/has received research support from the National Health and Medical Research Council of Australia, the Health Research Council of New Zealand, the University of Melbourne, the American Epilepsy Society, the Jack Brockhoff Foundation, the Shepherd Foundation, and the Perpetual Charitable Trustees.Funding was provided by the National Health and Medical Research Council of Australia, the Methusalem Excellence Grant of the Flemish Government, and the European Union (EPICURE project). Additional Contributions: We thank the patients and their families for participating in our research. We also thank the VIB Genetic Service Facility (http://www.vibgeneticservicefacility.be) for the genetic analyses.