@article{UBHD-68880875, author={Bayat, Allan and Pendziwiat, Manuela and Obersztyn, Ewa and Goldenberg, Paula and Zacher, Pia and Driedger, Jan Henje and Syrbe, Steffen and Begtrup, Amber and Borovikov, Artem and Sharkov, Artem and Karasińska, Aneta and Giżewska, Maria and Mitchell, Wendy and Morava-Kozicz, Eva and Møller, Rikke S. and Rubboli, Guido}, title={Deep-phenotyping the less severe spectrum of PIGT deficiency and linking the gene to myoclonic atonic seizures}, year={2021}, pages={1-12}, language={eng}, issn={1664-8021}, volume={12}, number={Artikel-ID 663643}, note={Gesehen am 21.02.2022}, journal={Frontiers in genetics}, } @article{UBHD-69010059, author={Driedger, Jan Henje and Saffari, Afshin and Bast, Thomas and Brockmann, Knut and Ehrhardt, Laura and Fazeli, Walid and Janzarik, Wibke G. and Klabunde-Cherwon, Annick and Kluger, Gerhard and Muhle, Hiltrud and Pendziwiat, Manuela and Møller, Rikke S. and Platzer, Konrad and Santos, Joana Larupa and Schr{\"o}ter, Julian and Hoffmann, Georg F. and K{\"o}lker, Stefan and Syrbe, Steffen}, title={Efficacy, tolerability, and retention of antiseizure medications in PRRT2-associated infantile epilepsy}, year={2022}, pages={1-11}, language={eng}, issn={2376-7839}, volume={8}, number={5 vom: Okt.}, note={First published September 28, 2022 ; Gesehen am 25.01.2023}, journal={Neurology}, doi={10.1212/NXG.0000000000200020}, url={https://doi.org/10.1212/NXG.0000000000200020}, library={UB}, } @book{UBHD-67540666, author={Driedger, Jan Henje}, title={Komplement{\"a}rmedizin und alternative Heilmethoden bei Kindern mit Epilepsieerkrankungen}, subtitle={eine Evaluation elterlicher Komedikation}, year={2013}, pages={102, 6 S.}, language={ger}, school={Heidelberg, Univ., Diss., 2013}, library={UB [Signatur: 2014 U 209]}, } @article{UBHD-69318531, author={Driedger, Jan Henje and Schr{\"o}ter, Julian and Hertzberg, Christoph and Weschke, Bernhard and Kaindl, Angela M. and L{\"u}cke, Thomas and Thiels, Charlotte and Klotz, Kerstin A. and Fazeli, Walid and Rostásy, Kevin and Wiethoff-Ubrig, Lucia and Kaiser, Olaf and Trollmann, Regina and Mammadova, Dilbar and Schubert-Bast, Susanne and Bach, Alexia and Eckenweiler, Matthias and Sch{\"o}nberger, Jan and Martakis, Kyriakos and Hahn, Andreas and Brockmann, Knut and Dreha-Kulaczewski, Steffi and Weiss, Deike and Denecke, Jonas and Muhle, Hiltrud and Arélin, Maria and Merkenschlager, Andreas and Borggr{\"a}fe, Ingo and Roser, Timo and Ebrahimi-Fakhari, Daniel and Fiedler, Barbara and Schlump, Jan-Ulrich and K{\"o}ster, Ilka and Korenke, Christoph and Alber, Michael and Ruf, Susanne and Feucht, Martha and Scholl, Theresa and Syrbe, Steffen and Saffari, Afshin}, title={Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex (TSC) under 4 months of age (PROTECT), a two-arm, randomized, observer-blind, controlled phase IIb national multicentre clinical trial}, subtitle={study protocol}, year={2025}, pages={1-10}, language={eng}, issn={1750-1172}, volume={20}, note={Gesehen am 14.03.2025}, journal={Orphanet journal of rare diseases}, doi={10.1186/s13023-024-03495-1}, } @article{UBHD-68360107, author={Driedger, Jan Henje and Reuner, Gitta and Kadish, Navah and Pietz, Joachim and Schubert-Bast, Susanne}, title={Pattern and predictors of complementary and alternative medicine (CAM) use among pediatric patients with epilepsy}, year={2013}, pages={41-46}, language={eng}, issn={1525-5069}, volume={29}, number={1}, note={Gesehen am 19.02.2019}, journal={Epilepsy & behavior}, doi={10.1016/j.yebeh.2013.06.025}, } @article{UBHD-68697308, author={Driedger, Jan Henje and Saffari, Afshin and Hoffmann, Georg F. and K{\"o}lker, Stefan and Syrbe, Steffen}, title={The phenotypic spectrum of PRRT2-associated paroxysmal neurologic disorders in childhood}, year={2020}, pages={1-14}, language={eng}, issn={2227-9059}, volume={8}, note={Gesehen am 09.02.2021}, journal={Biomedicines}, doi={10.3390/biomedicines8110456}, } @article{UBHD-68748690, author={Driedger, Jan Henje and Schr{\"o}ter, Julian and J{\"u}ngling, Jerome and Biskup, Saskia and Klotz, Kerstin A. and Bast, Thomas and Dietel, Tobias and Korenke, Christoph and Christoph, Sophie and Brennenstuhl, Heiko and Rubboli, Guido and Møller, Rikke S. and Lesca, Gaetan and Chaix, Yves and K{\"o}lker, Stefan and Hoffmann, Georg F. and Lemke, Johannes and Syrbe, Steffen}, title={Refining genotypes and phenotypes in KCNA2-related neurological disorders}, year={2021}, pages={1-16}, language={eng}, issn={1422-0067 and 1661-6596}, volume={22}, note={Gesehen am 15.06.2021}, journal={International journal of molecular sciences}, doi={10.3390/ijms22062824}, } @article{UBHD-68065206, author={Driedger, Jan Henje and Lampert, Anette and Hoffmann, Georg F. and Ries, Markus}, title={Thirty years of orphan drug legislation and the development of drugs to treat rare seizure conditions}, subtitle={a cross sectional analysis}, year={2016}, pages={15 S.}, language={eng}, issn={1932-6203}, volume={11(2016}, note={Gesehen am 16.12.2016}, journal={PLOS ONE}, doi={10.1371/journal.pone.0161660}, url={http://dx.doi.org/10.1371/journal.pone.0161660}, library={UB}, } @article{UBHD-68475285, author={Le Duc, Diana and Kotzaeridou, Urania and Syrbe, Steffen and Driedger, Jan Henje and Ziegler, Andreas}, title={Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size}, year={2019}, pages={2617-2630}, language={eng}, issn={1460-2156}, volume={142}, number={9}, note={Gesehen am 14.01.2020}, journal={Brain}, doi={10.1093/brain/awz198}, } @article{UBHD-68237692, author={Reuner, Gitta and Kadish, Navah and Driedger, Jan Henje and Balke, Doreen and Schubert-Bast, Susanne}, title={Attention and executive functions in the early course of pediatric epilepsy}, year={2016}, pages={42-49}, language={eng}, issn={1525-5069}, volume={60}, note={Gesehen am 29.03.2018}, journal={Epilepsy & behavior}, doi={10.1016/j.yebeh.2016.04.011}, } @article{UBHD-69087216, author={Schr{\"o}ter, Julian and Popp, Bernt and Brennenstuhl, Heiko and Driedger, Jan Henje and Jestaedt, Leonie and Arélin, Maria and Gr{\"a}fe, Daniel and Neuser, Sonja Anna and Parker, Michael and Lemke, Johannes and Hoffmann, Georg F. and K{\"o}lker, Stefan and Harting, Inga and Syrbe, Steffen}, title={Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies}, year={2022}, pages={298-306}, language={eng}, issn={1476-5438}, volume={30}, number={3}, note={Gesehen am 19.06.2023}, journal={European journal of human genetics}, doi={10.1038/s41431-021-01027-0}, url={https://doi.org/10.1038/s41431-021-01027-0}, library={UB}, } @article{UBHD-68740526, author={Schr{\"o}ter, Julian and Driedger, Jan Henje and Garbade, Sven and Hoffmann, Georg F. and K{\"o}lker, Stefan and Ries, Markus and Syrbe, Steffen}, title={Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies}, year={2021}, pages={516-523}, language={eng}, issn={1530-0366}, volume={23}, number={3}, note={Published: 21 October 2020 ; Gesehen am 25.05.2021}, journal={Genetics in medicine}, doi={10.1038/s41436-020-01001-z}, url={https://doi.org/10.1038/s41436-020-01001-z}, library={UB}, } @article{UBHD-68745891, author={Sonnek, Benedikt and Driedger, Jan Henje and M{\"u}tze, Ulrike and Schubert-Bast, Susanne and Bast, Thomas and Balke, Doreen and Reuner, Gitta and Schuler, Elisabeth and Klabunde-Cherwon, Annick and Hoffmann, Georg F. and K{\"o}lker, Stefan and Syrbe, Steffen}, title={Clinical spectrum and treatment outcome of 95 children with continuous spikes and waves during sleep (CSWS)}, year={2021}, pages={121-127}, language={eng}, issn={1532-2130}, volume={30}, note={Online 24 October 2020 ; Gesehen am 08.06.2021}, journal={European journal of paediatric neurology}, doi={10.1016/j.ejpn.2020.10.010}, } @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-69281483, author={Urban, Oliver Y. and Driedger, Jan Henje and Garbade, Sven and Hoffmann, Georg F. and K{\"o}lker, Stefan and Ries, Markus and Syrbe, Steffen}, title={Systematic quantitative modeling of the natural history of Aicardi syndrome}, subtitle={a cross sectional study of 245 published cases}, year={2024}, pages={1-11}, language={eng}, issn={1750-1172}, volume={19}, number={Artikel-ID 457}, note={Gesehen am 09.12.2024}, journal={Orphanet journal of rare diseases}, doi={10.1186/s13023-024-03375-8}, }