Journalartikel
Autorenliste: Muhle, Hiltrud; Helbig, Ingo; Froslev, Tobias Guldberg; Suls, Arvid; von Spiczak, Sarah; Klitten, Laura Line; Dahl, Hans Atli; Brusgaard, Klaus; Neubauer, Bernd; De Jonghe, Peter; Tomnnerup, Niels; Stephani, Ulrich; Hjalgrim, Helle; Moller, Rikke Steensbjerre
Jahr der Veröffentlichung: 2013
Seiten: 229-233
Zeitschrift: Epilepsy Research
Bandnummer: 105
Heftnummer: 1-2
ISSN: 0920-1211
DOI Link: https://doi.org/10.1016/j.eplepsyres.2012.11.004
Verlag: Elsevier
Abstract:
Early Onset Absence Epilepsy constitutes an Idiopathic Generalized Epilepsy with absences starting before the age of four years. Mutations in SLC2A1, encoding the glucose transporter, account for approximately 10% of EOAE cases. The role of SLC2A1 mutations in absence epilepsies with a later onset has not been assessed. We found two mutation carriers in 26 EOAE patients, while no mutations were found in 124 probands affected by CAE or JAE. (C) 2012 Elsevier B.V. All rights reserved.
Zitierstile
Harvard-Zitierstil: Muhle, H., Helbig, I., Froslev, T., Suls, A., von Spiczak, S., Klitten, L., et al. (2013) The role of SLC2A1 in early onset and childhood absence epilepsies, Epilepsy Research, 105(1-2), pp. 229-233. https://doi.org/10.1016/j.eplepsyres.2012.11.004
APA-Zitierstil: Muhle, H., Helbig, I., Froslev, T., Suls, A., von Spiczak, S., Klitten, L., Dahl, H., Brusgaard, K., Neubauer, B., De Jonghe, P., Tomnnerup, N., Stephani, U., Hjalgrim, H., & Moller, R. (2013). The role of SLC2A1 in early onset and childhood absence epilepsies. Epilepsy Research. 105(1-2), 229-233. https://doi.org/10.1016/j.eplepsyres.2012.11.004
Schlagwörter
DEVELOPMENTAL DELAY; Generalized epilepsies; Genetic epilepsies; GLUCOSE-TRANSPORTER-1 DEFICIENCY; GLUT1 deficiency; GLUT-1 DEFICIENCY SYNDROME; IGE; SEIZURES
