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The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome

Jan Larsen, Katrine Marie Johannesen, Jakob Ek, Shan Tang, Carla Marini, Susanne Blichfeldt, Maria Kibaek, Sarah von Spiczak, Sarah Weckhuysen, Mimoza Frangu, Bernd Axel Neubauer, Peter Uldall, Pasquale Striano, Federico Zara, Rebecca Kleiss, Michael Simpson, Hiltrud Muhle, Marina Nikanorova, Birgit Jepsen, Niels TommerupUlrich Stephani, Renzo Guerrini, Morten Duno, Helle Hjalgrim, Deb Pal, Ingo Helbig, Rikke Steensbjerre Møller, MAE working group of the EuroEPINOMICS RES Consortium

94 Citations (Scopus)

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Neuroscience

Biochemistry, Genetics and Molecular Biology