The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome
Larsen, Jan, Johannesen, Katrine Marie, Ek, Jakob, Tang, Shan, Marini, Carla, Blichfeldt, Susanne, Kibæk, Maria, 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, Craiu, DC, Caglayan, HS, Talvik, T, Weber, YG, Barisic, N
Published in Epilepsia (Copenhagen) (01.12.2015)
Published in Epilepsia (Copenhagen) (01.12.2015)
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P40 – 1882 What is the predominant feature of epilepsy in Down syndrome?
Tarta-Arsene, O, Barca, D, Iliescu, C, Budisteanu, M, Motoescu, CH, Magureanu, SA, Craiu, DC
Published in European journal of paediatric neurology (01.09.2013)
Published in European journal of paediatric neurology (01.09.2013)
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Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients
Kovel, Carolien G.F., Brilstra, Eva H., Kempen, Marjan J.A., Slot, Ruben, Nijman, Isaac J., Afawi, Zaid, De Jonghe, Peter, Djémié, Tania, Guerrini, Renzo, Hardies, Katia, Helbig, Ingo, Hendrickx, Rik, Kanaan, Moine, Kramer, Uri, Lehesjoki, Anna‐Elina E., Lemke, Johannes R., Marini, Carla, Mei, Davide, Møller, Rikke S., Pendziwiat, Manuela, Stamberger, Hannah, Suls, Arvid, Weckhuysen, Sarah, Koeleman, Bobby P.C., R, Balling, N, Barisic, S, Baulac, HS, Caglayan, DC, Craiu, C, Depienne, P, Gormley, H, Hjalgrim, D, Hoffman‐Zacharska, J, Jähn, KM, Klein, V, Komarek, E, LeGuern, H, Lerche, P, May, H, Muhle, D, Pal, A, Palotie, F, Rosenow, K, Selmer, JM, Serratosa, SM, Sisodiya, U, Stephani, K, Sterbova, P, Striano, T, Talvik, M, van Haelst, N, Verbeek, S, von Spiczak, YG, Weber
Published in Molecular genetics & genomic medicine (01.09.2016)
Published in Molecular genetics & genomic medicine (01.09.2016)
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