@article{UBHD-69274527, author={Thalwitzer, Kim M. and Xian, Julie and de Campo, Danielle and Parthasarathy, Shridhar and Magielski, Jan and Sullivan, Katie R. and Goss, James and Rigby, Charlene Son and Boland, Michael and Prosser, Ben and Ruggiero, Sarah M. and Syrbe, Steffen and Helbig, Ingo}, title={Early life seizures and epileptic spasms in -related disorders}, year={2024}, pages={805-816}, language={eng}, issn={1528-1167}, volume={65}, number={3}, note={Gesehen am 18.11.2024}, journal={Epilepsia}, doi={10.1111/epi.17886}, } @article{UBHD-69098314, author={Thalwitzer, Kim M. and Driedger, Jan Henje and Xian, Julie and Saffari, Afshin and Zacher, Pia and B{\"o}lsterli, Bigna K. and McKeown Ruggiero, Sarah and Sullivan, Katie Rose and Datta, Alexandre N. and Kellinghaus, Christoph and Althaus, J{\"u}rgen and Wiemer-Kruel, Adelheid and van Baalen, Andreas and Pampel, Armin and Alber, Michael and Braakman, Hilde M. H. and Debus, Otfried Martin and Denecke, Jonas and Hobbiebrunken, Elke and Breitweg, Ina and Diehl, Danielle and Eitel, Hans Christian and Gburek-Augustat, Janina and Preisel, Martin and Schlump, Jan-Ulrich and Laufs, Mirjam and Mammadova, Dilbar and Wurst, Carsten and Prager, Christine and L{\"o}hr-Nilles, Christa and Martin, Peter and Garbade, Sven and Platzer, Konrad and Benkel-Herrenbrueck, Ira and Egler, Kerstin and Fazeli, Walid and Lemke, Johannes R. and Runkel, Eva and Klein, Barbara and Linden, Tobias and Schr{\"o}ter, Julian and Steffeck, Heike and Thies, Bastian and Deimling, Florian von and Illsinger, Sabine and Borggr{\"a}fe, Ingo and Classen, Georg and Wieczorek, Dagmar and Ramantani, Georgia and K{\"o}lker, Stefan and Hoffmann, Georg F. and Ries, Markus and Helbig, Ingo and Syrbe, Steffen}, title={Natural history and developmental trajectories of individuals with disease-causing variants in STXBP1}, year={2023}, pages={e879-e891}, language={eng}, issn={1526-632X}, volume={101}, number={9}, note={Gesehen am 17.07.2023}, journal={Neurology}, doi={10.1212/WNL.0000000000207550}, } @article{UBHD-69167213, author={Xian, Julie and Thalwitzer, Kim M. and McKee, Jillian and Sullivan, Katie Rose and Brimble, Elise and Fitch, Eryn and Toib, Jonathan and Kaufman, Michael C and deCampo, Danielle and Cunningham, Kristin and Pierce, Samuel R and Goss, James and Rigby, Charlene Son and Syrbe, Steffen and Boland, Mike and Prosser, Benjamin and Fitter, Nasha and Ruggiero, Sarah M and Helbig, Ingo}, title={Delineating clinical and developmental outcomes in STXBP1-related disorders}, year={2023}, pages={5182-5197}, language={eng}, issn={1460-2156}, volume={146}, number={12 vom: Dez.}, note={Online verf{\"u}gbar: 28. November 2023 ; Gesehen am 30.01.2024}, journal={Brain}, doi={10.1093/brain/awad287}, }