American Epilepsy Society
Poster # tbd
Friday, December 4, 2015 12:00 - 12:00pm Abstract
Johannes R. Lemke, Kirsten Geider, Katherine L. Helbig, Henrike O. Heyne, Ingo Helbig, Jacques Michaud, Bodo Laube, Steffen Syrbe. Delineating the GRIN1 spectrum – a distinct genetic NMDA receptor encephalopathy.
Poster # tbd
Friday, December 4, 2015 12:00 - 12:00pm Poster
Katherine L. Helbig, Robert Huether, Eva H. Brilstra, Floor E. Jansen, Luis O. Rohena, Timothy Feyma, Christel Depienne, Caroline Nava, Kelly D. Farwell, Sha Tang, Bobby P. C. Koeleman, Michael C. Kruer. Delineation of the EEF1A2-Epileptic Encephalopathy Phenotypic Spectrum.
Poster # tbd
Friday, December 4, 2015 12:00 - 12:00pm Abstract
K. Johannesen, C. Fenger, S. Schweiger, K. L. Helbig, R. Abrahamsen, R. Schubert, P. Striano, P. Uldall, A. Eysturoy, L. Larsen, K. Baranano, J. Cohen, N. Tommerup, E. Gardella, H. Dahl, U. Zechner, G. Rubboli, R. S. Møller. Mutations in HUWE1 cause intellectual disability, speech difficulties, and epileptic encephalopathies.
Poster # tbd
Friday, December 4, 2015 12:00 - 12:00pm Abstract
Ingo Helbig, Deepali Shinde, Robert Huether, Charles Lourenço, Katherine L. Helbig, Sarah von Spiczak, M. Pendziwiat, Mark Nunes, Dean Sarco, Richard Kaplan, Dennis Dlugos, Heidi Kirsch, Mackenzie Cervenka, Laura Hernandez-Hernandez, Bridget Maher, Sarah Weckhuysen, Rikke S. Møller, Sergio Pena, Sanjay Sisodiya. The phenotypic and genetic spectrum of DNM1 encephalopathy.