Article
The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.
Epilepsia - 1 Dec 2015
Larsen Jan, Johannesen Katrine Marie, Ek Jakob, Tang Shan, Marini Carla, Blichfeldt Susanne, Kibaek Maria, von Spiczak Sarah, Weckhuysen Sarah, Frangu Mimoza, Neubauer Bernd Axel, Uldall Peter, Striano Pasquale, Zara Federico, Kleiss Rebecca, Simpson Michael, Muhle Hiltrud, Nikanorova Marina, Jepsen Birgit, Tommerup Niels, Stephani Ulrich, Guerrini Renzo, Duno Morten, Hjalgrim Helle, Pal Deb, Helbig Ingo, Møller Rikke Steensbjerre
Abstract excerpt
The first mutations identified in SLC2A1, encoding the glucose transporter type 1 (GLUT1) protein of the blood-brain barrier, were associated with severe epileptic encephalopathy. Recently, dominant SLC2A1 mutations were found in rare autosomal dominant families with various forms of epilepsy including early onset absence epilepsy (EOAE), myoclonic astatic epilepsy (MAE), and genetic generalized epilepsy (GGE)....
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