Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency
SA Mullen, A Suls, P De Jonghe, SF Berkovic, IE Scheffer
Neurology | LIPPINCOTT WILLIAMS & WILKINS | Published : 2010
BACKGROUND: Familial glucose transporter type 1 (GLUT1) deficiency due to autosomal dominant inheritance of SLC2A1 mutations is associated with paroxysmal exertional dyskinesia; epilepsy and intellectual disability occur in some family members. We recently demonstrated that GLUT1 deficiency occurs in over 10% of patients with early-onset absence epilepsy. METHODS: This family study analyses the phenotypes in 2 kindreds segregating SLC2A1 mutations identified through probands with early-onset absence epilepsy. One comprised 9 individuals with mutations over 3 generations; the other had 6 individuals over 2 generations. RESULTS: Of 15 subjects with SLC2A1 mutations, epilepsy occurred in 12. Ab..View full abstract
Supported by the National Health and Medical Research Council of Australia, the Fund for Scientific Research Flanders (FWO-F), the Methusalem Excellence Grant of the Flemish Government, and the University of Antwerp.Dr. Mullen has received research support from the National Health and Medical Research Council of Australia and from Pfizer Inc. (Neuroscience Grant). Dr. Suls reports no disclosures. Dr. De Jonghe has received research support from the Fund for Scientific Research Flanders (FWO-F), the Methusalem excellence grant of the Flemish Government, and the University of Antwerp. 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 on scientific advisory boards for and received funding for travel from UCB and Janssen-Cilag EMEA; serves on the editorial boards of the Annals of Neurology and Epilepsia; may accrue future revenue on pending patent WO61/010176 (filed: 2008): Therapeutic Compound; has received speaker honoraria from UCB, Janssen-Cilag EMEA, and Eli Lilly and Company; and receives/has received research support from the National Health and Medical Research Council of Australia, Health Research Council of New Zealand, The University of Melbourne, the Jack Brock-hoff Foundation, and the Perpetual Charitable Trustees.