@article{UBHD-68739494,
  author={Ademuwagun, Ibitayo Abigail and Rotimi, Solomon Oladapo and Syrbe, Steffen and Ajamma, Yvonne Ukamaka and Adebiyi, Ezekiel},
  title={Voltage gated sodium channel genes in epilepsy},
  subtitle={mutations, functional studies, and treatment dimensions},
  year={2021},
  pages={1-19},
  language={eng},
  issn={1664-2295},
  volume={12(2021) vom: M{\"a}rz},
  number={Artikel-ID 600050},
  note={Gesehen am 19.05.2021},
  journal={Frontiers in neurology},
  doi={10.3389/fneur.2021.600050},
}
@article{UBHD-68494889,
  author={Bach, Vivien Angela and Syrbe, Steffen and Bertsche, Astrid},
  title={How do parents perceive adverse drug events of their children's anticonvulsant medication?},
  year={2018},
  pages={427-433},
  language={eng},
  issn={1532-2130},
  volume={22},
  number={3},
  note={Gesehen am 28.02.2020},
  journal={European journal of paediatric neurology},
  doi={10.1016/j.ejpn.2018.01.027},
}
@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-69214040,
  author={Begemann, Anaïs and Sticht, Heinrich and Begtrup, Amber and Vitobello, Antonio and Faivre, Laurence and Banka, Siddharth and Alhaddad, Bader and Asadollahi, Reza and Becker, Jessica and Bierhals, Tatjana and Brown, Kathleen E. and Bruel, Ange-Line and Brunet, Theresa and Carneiro, Maryline and Cremer, Kirsten and Day, Robert and Denommé-Pichon, Anne-Sophie and Dyment, Dave A. and Engels, Hartmut and Fisher, Rachel and Goh, Elaine S. and Hajianpour, M. J. and Haertel, Lucia Ribeiro Machado and Hauer, Nadine and Hempel, Maja and Herget, Theresia and Johannsen, Jessika and Kraus, Cornelia and Le Guyader, Gwenaël and Lesca, Gaetan and Mau-Them, Frédéric Tran and McDermott, John Henry and McWalter, Kirsty and Meyer, Pierre and Õunap, Katrin and Popp, Bernt and Reimand, Tiia and Riedhammer, Korbinian M. and Russo, Martina and Sadleir, Lynette G. and Saenz, Margarita and Schiff, Manuel and Schuler, Elisabeth and Syrbe, Steffen and Van der Ven, Amelie Theresa and Verloes, Alain and Willems, Marjolaine and Zweier, Christiane and Steindl, Katharina and Zweier, Markus and Rauch, Anita},
  title={New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics},
  year={2021},
  pages={543-554},
  language={eng},
  issn={1530-0366},
  volume={23},
  number={3 vom: M{\"a}rz},
  note={Online ver{\"o}ffentlicht: 5. November 2020 ; Gesehen am 15.05.2024},
  journal={Genetics in medicine},
  doi={10.1038/s41436-020-01011-x},
}
@article{UBHD-68414412,
  author={Bernhard, Matthias K. and Krause, Matthias and Syrbe, Steffen},
  title={Sweaty feet in adolescents},
  subtitle={early use of botulinum type A toxin in juvenile plantar hyperhidrosis},
  year={2018},
  pages={784-786},
  language={eng},
  issn={1525-1470},
  volume={35},
  number={6},
  note={Gesehen am 31.07.2019},
  journal={Pediatric dermatology},
  doi={10.1111/pde.13628},
}
@article{UBHD-68420627,
  author={Bertsche, Thilo and Syrbe, Steffen},
  title={Interdisziplin{\"a}re Konzepte von P{\"a}diatrie und Klinischer Pharmazie zur Optimierung der Antikonvulsivatherapie},
  subtitle={ =},
  year={2018},
  pages={5-12},
  language={ger},
  issn={1439-3824},
  volume={230},
  number={1},
  note={Gesehen am 14.08.2019 ; 19. Dezember 2017 (eFirst)},
  journal={Klinische P{\"a}diatrie},
  doi={10.1055/s-0043-120525},
}
@article{UBHD-68977402,
  author={B{\"o}lsterli Heinzle, Bigna and Boltshauser, Eugen and Palmieri, Luigi and Spenger, Johannes and Brunner-Krainz, Michaela and Distelmaier, Felix and Freisinger, Peter and Geis, Tobias and Gropman, Andrea L. and H{\"a}berle, Johannes and Hentschel, Julia and Jeandidier, Bruno and Karall, Daniela and Keren, Boris and Klabunde-Cherwon, Annick and Konstantopoulou, Vassiliki and Kottke, Raimund and Lasorsa, Francesco M. and Makowski, Christine and Mignot, Cyril and O’Gorman Tuura, Ruth and Porcelli, Vito and Santer, René and Sen, Kuntal and Steinbr{\"u}cker, Katja and Syrbe, Steffen and Wagner, Matias and Ziegler, Andreas and Z{\"o}ggeler, Thomas and Mayr, Johannes A. and Prokisch, Holger and Wortmann, Saskia B.},
  title={Ketogenic diet treatment of defects in the mitochondrial malate aspartate shuttle and pyruvate carrier},
  year={2022},
  pages={1-30},
  language={eng},
  issn={2072-6643},
  volume={14},
  note={Gesehen am 24.10.2022},
  journal={Nutrients},
  doi={10.3390/nu14173605},
}
@article{UBHD-69038488,
  author={Bonardi, Claudia M. and Heyne, Henrike O and Fiannacca, Martina and Fitzgerald, Mark P and Gardella, Elena and Gunning, Boudewijn and Olofsson, Kern and Lesca, Gaétan and Verbeek, Nienke and Stamberger, Hannah and Striano, Pasquale and Zara, Federico and Mancardi, Maria M and Nava, Caroline and Syrbe, Steffen and Buono, Salvatore and Baulac, Stephanie and Coppola, Antonietta and Weckhuysen, Sarah and Schoonjans, An-Sofie and Ceulemans, Berten and Sarret, Catherine and Baumgartner, Tobias and Muhle, Hiltrud and Portes, Vincent des and Toulouse, Joseph and Nougues, Marie-Christine and Rossi, Massimiliano and Demarquay, Geneviève and Ville, Dorothée and Hirsch, Edouard and Maurey, Hélène and Willems, Marjolaine and de Bellescize, Julitta and Altuzarra, Cecilia Desmettre and Villeneuve, Nathalie and Bartolomei, Fabrice and Picard, Fabienne and Hornemann, Frauke and Koolen, David A and Kroes, Hester Y and Reale, Chiara and Fenger, Christina D and Tan, Wen-Hann and Dibbens, Leanne and Bearden, David R and Møller, Rikke S and Rubboli, Guido},
  title={KCNT1-related epilepsies and epileptic encephalopathies},
  subtitle={phenotypic and mutational spectrum},
  year={2021},
  pages={3635-3650},
  language={eng},
  issn={1460-2156},
  volume={144},
  number={12 vom: Dez.},
  note={Gesehen am 07.02.2023},
  journal={Brain},
  doi={10.1093/brain/awab219},
}
@article{UBHD-68966946,
  author={Boßelmann, Christian Malte and San Antonio-Arce, Victoria and Schulze-Bonhage, Andreas and Fauser, Susanne and Zacher, Pia and Mayer, Thomas and Aparicio, Javier and Albers, Kristina and Cloppenborg, Thomas and Kunz, Wolfram and Surges, Rainer and Syrbe, Steffen and Weber, Yvonne and Wolking, Stefan},
  title={Genetic testing before epilepsy surgery},
  subtitle={an exploratory survey and case collection from German epilepsy centers},
  year={2022},
  pages={4-10},
  language={eng},
  issn={1532-2688},
  volume={95(2022) vom: Feb.},
  note={Online verf{\"u}gbar 17 Dezember 2021, Version des Artikels 23 Dezember 2021 ; Gesehen am 23.09.2022},
  journal={Seizure},
  doi={10.1016/j.seizure.2021.12.004},
}
@article{UBHD-68583843,
  author={Brennenstuhl, Heiko and Kohlm{\"u}ller, Dirk and Gramer, Gwendolyn and Garbade, Sven and Syrbe, Steffen and Feyh, Patrik and K{\"o}lker, Stefan and Okun, J{\"u}rgen G. and Hoffmann, Georg F. and Opladen, Thomas},
  title={High throughput newborn screening for aromatic ʟ-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots},
  year={2020},
  pages={602-610},
  language={eng},
  issn={1573-2665},
  volume={43},
  number={3},
  note={First published: 18 December 2019 ; Gesehen am 04.06.2020},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12208},
  url={https://doi.org/10.1002/jimd.12208},
  library={UB},
}
@article{UBHD-68428775,
  author={Bringmann, Andreas and Syrbe, Steffen},
  title={The primate fovea},
  subtitle={structure, function and development},
  year={2018},
  pages={49-84},
  language={eng},
  issn={1873-1635},
  volume={66},
  note={Gesehen am 10.09.2019},
  journal={Progress in retinal and eye research},
  doi={10.1016/j.preteyeres.2018.03.006},
}
@article{UBHD-69055500,
  author={Brunklaus, Andreas and Br{\"u}nger, Tobias and Feng, Tony and Fons, Carmen and Lehikoinen, Anni and Panagiotakaki, Eleni and Vintan, Mihaela-Adela and Symonds, Joseph and Andrew, James and Arzimanoglou, Alexis and Delima, Sarah and Gallois, Julie and Hanrahan, Donncha and Lesca, Gaetan and MacLeod, Stewart and Marjanovic, Dragan and McTague, Amy and Nuñez-Enamorado, Noemi and Perez-Palma, Eduardo and Scott Perry, M and Pysden, Karen and Russ-Hall, Sophie J and Scheffer, Ingrid E and Sully, Krystal and Syrbe, Steffen and Vaher, Ulvi and Velayutham, Murugan and Vogt, Julie and Weiss, Shelly and Wirrell, Elaine and Zuberi, Sameer M and Lal, Dennis and Møller, Rikke S and Mantegazza, Massimo and Cestèle, Sandrine},
  title={The gain of function SCN1A disorder spectrum},
  subtitle={novel epilepsy phenotypes and therapeutic implications},
  year={2022},
  pages={3816-3831},
  language={eng},
  issn={1460-2156},
  volume={145},
  number={11 vom: Juni},
  note={Gesehen am 24.03.2023},
  journal={Brain},
  doi={10.1093/brain/awac210},
}
@article{UBHD-69297011,
  author={Cuccurullo, Claudia and Syrbe, Steffen and Schuler, Elisabeth},
  title={Clinical features and genotype-phenotype correlations in epilepsy patients with de novo variants},
  year={2024},
  pages={2728-2750},
  language={eng},
  issn={1528-1167},
  volume={65},
  number={9},
  note={Ver{\"o}ffentlicht: 02 July 2024 ; Gesehen am 03.02.2025},
  journal={Epilepsia},
  doi={10.1111/epi.18054},
}
@article{UBHD-68464809,
  author={Danhauser, Katharina and Alhaddad, Bader and Makowski, Christine and Piekutowska-Abramczuk, Dorota and Syrbe, Steffen and Gomez-Ospina, Natalia and Manning, Melanie A. and Kostera-Pruszczyk, Anna and Krahn-Peper, Claudia and Berutti, Riccardo},
  title={Bi-allelic ADPRHL2 mutations cause neurodegeneration with developmental delay, ataxia, and axonal neuropathy},
  year={2018},
  pages={817-825},
  language={eng},
  issn={1537-6605},
  volume={103},
  number={5},
  note={Gesehen am 06.12.2019},
  journal={The American journal of human genetics},
  doi={10.1016/j.ajhg.2018.10.005},
}
@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},
}
@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-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-68457191,
  author={Fitzgerald, Mark P. and Fiannacca, Martina and Smith, Douglas M. and Gertler, Tracy S. and Gunning, Boudewijn and Syrbe, Steffen and Verbeek, Nienke and Stamberger, Hannah and Weckhuysen, Sarah and Ceulemans, Berten and Schoonjans, An-Sofie and Rossi, Massimiliano and Demarquay, Geneviève and Lesca, Gaetan and Olofsson, Kern and Koolen, D. A. and Hornemann, Frauke and Baulac, Stephanie and Rubboli, Guido and Minks, Kelly Q. and Lee, Bohoon and Helbig, Ingo and Dlugos, Dennis and Møller, Rikke S. and Bearden, David},
  title={Treatment responsiveness in KCNT1-related epilepsy},
  year={2019},
  pages={848-857},
  language={eng},
  issn={1878-7479},
  volume={16},
  number={3},
  note={Gesehen am 18.11.2019},
  journal={Neurotherapeutics},
  doi={10.1007/s13311-019-00739-y},
}
@article{UBHD-68772195,
  author={Grau, Janina and Syrbe, Steffen},
  title={Direct and indirect costs and cost-driving factors of Tuberous sclerosis complex in children, adolescents, and caregivers},
  subtitle={a multicenter cohort study},
  year={2021},
  pages={1-16},
  language={eng},
  issn={1750-1172},
  volume={16},
  number={Artikel-ID 282},
  note={Gesehen am 19.08.2021},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-021-01899-x},
}
@article{UBHD-68650174,
  author={Heyne, Henrike and Baez-Nieto, David and Iqbal, Sumaiya and Palmer, Duncan S. and Brunklaus, Andreas and May, Patrick and Johannesen, Katrine M. and Lauxmann, Stephan and Lemke, Johannes R. and Møller, Rikke S. and Pérez-Palma, Eduardo and Scholl, Ute I. and Syrbe, Steffen and Lerche, Holger and Lal, Dennis and Campbell, Arthur J. and Wang, Hao-Ran and Pan, Jen and Daly, Mark J.},
  title={Predicting functional effects of missense variants in voltage-gated sodium and calcium channels},
  year={2020},
  pages={16 S.},
  language={eng},
  issn={1946-6242},
  volume={12(2020},
  note={Gesehen am 19.10.2020},
  journal={Science translational medicine},
  doi={10.1126/scitranslmed.aay6848},
}
@article{UBHD-68429537,
  author={Hotopp, Lena Charlott and Spindler, Ulrike and Syrbe, Steffen},
  title={How do parents perceive the initial medical consultation on their child’s developmental disorder?},
  year={2018},
  pages={44-49},
  language={eng},
  issn={1439-3824},
  volume={230},
  number={01},
  note={19. Dez{\"o}ember 2017 (eFirst) ; Gesehen am 12.09.2019},
  journal={Klinische P{\"a}diatrie},
  doi={10.1055/s-0043-117960},
}
@article{UBHD-69317188,
  author={Issa, Mohammed and Kalliri, Vasiliki and Euteneuer, Sara and Kr{\"u}mpelmann, Arne and Seitz, Angelika and Sommerburg, Olaf and Westhoff, Jens and Syrbe, Steffen and Lenga, Pavlina and Grutza, Martin and Scherer, Moritz and Neumann, Jan-Oliver and Baumann, Ingo and Unterberg, Andreas and El Damaty, Ahmed},
  title={The association of COVID-19 pandemic with the increase of sinogenic and otogenic intracranial infections in children},
  subtitle={a 10-year retrospective comparative single-center study},
  year={2024},
  pages={1-10},
  language={eng},
  issn={1437-2320},
  volume={47},
  note={Gesehen am 11.03.2025},
  journal={Neurosurgical review},
  doi={10.1007/s10143-024-02442-9},
}
@article{UBHD-69345193,
  author={Issa, Mohammed and Dannehl, Clara and Seitz, Angelika and Lenga, Pavlina and Syrbe, Steffen and Krieg, Sandro and El Damaty, Ahmed},
  title={Correlation of endoscopic third ventriculostomy with postoperative body temperature elevation},
  subtitle={a single-center retrospective comparative study},
  year={2025},
  pages={1-10},
  language={eng},
  issn={1437-2320},
  volume={48},
  note={Gesehen am 15.05.2025},
  journal={Neurosurgical review},
  doi={10.1007/s10143-025-03190-0},
}
@article{UBHD-68707544,
  author={Jarius, Sven and Syrbe, Steffen and Korporal-Kuhnke, Mirjam and Haas, J{\"u}rgen and Wildemann, Brigitte},
  title={Cerebrospinal fluid findings in patients with myelin oligodendrocyte glycoprotein (MOG) antibodies. Part 2},
  subtitle={results from 108 lumbar punctures in 80 pediatric patients},
  year={2020},
  pages={28 S.},
  language={eng},
  issn={1742-2094},
  volume={17(2020) Artikel-Nummer 262},
  number={28 Seiten},
  note={Gesehen am 05.03.2021},
  journal={Journal of neuroinflammation},
  doi={10.1186/s12974-020-01825-1},
}
@article{UBHD-69217768,
  author={Kalm, Tassja and Schob, Claudia and V{\"o}ller, Hanna and Gardeitchik, Thatjana and Gilissen, Christian and Pfundt, Rolph and Kl{\"o}ckner, Chiara and Platzer, Konrad and Klabunde-Cherwon, Annick and Ries, Markus and Syrbe, Steffen and Beccaria, Francesca and Madia, Francesca and Scala, Marcello and Zara, Federico and Hofstede, Floris and Simon, Marleen E. H. and Jaarsveld, Richard H. van and Oegema, Renske and Gassen, Koen L. I. van and Holwerda, Sjoerd J. B. and Barakat, Tahsin Stefan and Bouman, Arjan and Slegtenhorst, Marjon van and Álvarez, Sara and Fernández-Jaén, Alberto and Porta, Javier and Accogli, Andrea and Mancardi, Margherita Maria and Striano, Pasquale and Iacomino, Michele and Chae, Jong-Hee and Jang, SeSong and Kim, Soo Y. and Chitayat, David and Mercimek-Andrews, Saadet and Depienne, Christel and Kampmeier, Antje and Kuechler, Alma and Surowy, Harald and Bertini, Enrico Silvio and Radio, Francesca Clementina and Mancini, Cecilia and Pizzi, Simone and Tartaglia, Marco and Gauthier, Lucas and Genevieve, David and Tharreau, Mylène and Azoulay, Noy and Zaks-Hoffer, Gal and Gilad, Nesia K. and Orenstein, Naama and Bernard, Geneviève and Thiffault, Isabelle and Denecke, Jonas and Herget, Theresia and Kort{\"u}m, Fanny and Kubisch, Christian and B{\"a}hring, Robert and Kindler, Stefan},
  title={Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity},
  year={2024},
  pages={1206-1221},
  language={eng},
  issn={1537-6605},
  volume={111},
  number={6 vom: Juni},
  note={Gesehen am 27.05.2024},
  journal={The American journal of human genetics},
  doi={10.1016/j.ajhg.2024.04.019},
}
@article{UBHD-68220075,
  author={Kaune, Almuth and Syrbe, Steffen},
  title={Administration of anticonvulsive rescue medication in children},
  subtitle={discrepancies between parents’ self-reports and limited practical performance},
  year={2016},
  pages={1139-1146},
  language={eng},
  issn={1432-1076},
  volume={175},
  number={9},
  note={Gesehen am 14.02.2018},
  journal={European journal of pediatrics},
  doi={10.1007/s00431-016-2750-6},
}
@article{UBHD-68659918,
  author={Klotz, Kerstin A. and Sch{\"o}nberger, Jan and Nakamura, Lea and San Antonio-Arce, Victoria and Bast, Thomas and Wiemer-Kruel, Adelheid and Schubert-Bast, Susanne and Borggraefe, Ingo and Syrbe, Steffen and Jacobs, Julia},
  title={Expectations and knowledge of cannabidiol therapy for childhood epilepsy},
  subtitle={a German caregiver survey},
  year={2020},
  pages={1-6},
  language={eng},
  issn={1525-5069},
  volume={111},
  number={Artikel-ID 107268},
  note={Gesehen am 11.11.2020},
  journal={Epilepsy & behavior},
  doi={10.1016/j.yebeh.2020.107268},
}
@article{UBHD-68303822,
  author={Kovel, Carolien de and Syrbe, Steffen},
  title={Neurodevelopmental disorders caused by de novo variants in KCNB1 genotypes and phenotypes},
  year={2017},
  pages={1228-1236},
  language={eng},
  issn={2168-6157},
  volume={74},
  number={10},
  note={Published online August 14, 2017 ; Gesehen am 11.09.2018},
  journal={JAMA neurology},
  doi={10.1001/jamaneurol.2017.1714},
}
@article{UBHD-68822921,
  author={Krey, Ilona and Heine, Constanze and Fr{\"o}mming, Marcel and Herrmann, Julia and Møller, Rikke S. and Weckhuysen, Sarah and Courage, Carolina and Beblo, Skadi and Syrbe, Steffen and Lemke, Johannes R.},
  title={The Angelman Syndrome Online Registry - a multilingual approach to support global research},
  year={2021},
  pages={1-5},
  language={eng},
  issn={1878-0849},
  volume={64},
  note={Gesehen am 14.12.2021},
  journal={European journal of medical genetics},
  doi={10.1016/j.ejmg.2021.104349},
}
@article{UBHD-68612947,
  author={Krey, Ilona and Krois-Neudenberger, Janna and Hentschel, Julia and Syrbe, Steffen and Polster, Tilman and Hanker, Britta and Fiedler, Barbara and Kurlemann, Gerhardt and Lemke, Johannes R.},
  title={Genotype-phenotype correlation on 45 individuals with West syndrome},
  year={2020},
  pages={134-138},
  language={eng},
  issn={1532-2130},
  volume={25},
  note={Available online: 26 November 2019 ; Gesehen am 02.07.2020},
  journal={European journal of paediatric neurology},
  doi={10.1016/j.ejpn.2019.11.010},
}
@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-68352917,
  author={Lemke, Johannes and Syrbe, Steffen},
  title={Delineating the GRIN1 phenotypic spectrum},
  year={2016},
  pages={2171-2178},
  language={eng},
  issn={1526-632X},
  volume={86},
  number={23},
  note={Gesehen am 29.01.2019},
  journal={Neurology},
  doi={10.1212/WNL.0000000000002740},
}
@article{UBHD-68682705,
  author={Lessel, Davor and Zeitler, Daniela M. and Reijnders, Margot R. F. and Kazantsev, Andriy and Hassani Nia, Fatemeh and Bartholom{\"a}us, Alexander and Martens, Victoria and Bruckmann, Astrid and Graus, Veronika and McConkie-Rosell, Allyn and McDonald, Marie and Lozic, Bernarda and Tan, Ee-Shien and Gerkes, Erica and Johannsen, Jessika and Denecke, Jonas and Telegrafi, Aida and Zonneveld-Huijssoon, Evelien and Lemmink, Henny H. and Cham, Breana W. M. and Kovacevic, Tanja and Ramsdell, Linda and Foss, Kimberly and Le Duc, Diana and Mitter, Diana and Syrbe, Steffen and Merkenschlager, Andreas and Sinnema, Margje and Panis, Bianca and Lazier, Joanna and Osmond, Matthew and Hartley, Taila and Mortreux, Jeremie and Busa, Tiffany and Missirian, Chantal and Prasun, Pankaj and L{\"u}ttgen, Sabine and Mannucci, Ilaria and Lessel, Ivana and Schob, Claudia and Kindler, Stefan and Pappas, John and Rabin, Rachel and Willemsen, Marjolein and Gardeitchik, Thatjana and L{\"o}hner, Katharina and Rump, Patrick and Dias, Kerith-Rae and Evans, Carey-Anne and Andrews, Peter Ian and Roscioli, Tony and Brunner, Han G. and Chijiwa, Chieko and Lewis, M. E. Suzanne and Abou Jamra, Rami and Dyment, David A. and Boycott, Kym M. and Stegmann, Alexander P. A. and Kubisch, Christian and Tan, Ene-Choo and Mirzaa, Ghayda M. and McWalter, Kirsty and Kleefstra, Tjitske and Pfundt, Rolph and Ignatova, Zoya and Meister, Gunter and Kreienkamp, Hans-J{\"u}rgen},
  title={Germline AGO2 mutations impair RNA interference and human neurological development},
  year={2020},
  pages={14 S.},
  language={eng},
  issn={2041-1723},
  volume={11(2020) Artikel-Nummer 5797},
  number={14 Seiten},
  note={Davor Lessel, Daniela M. Zeitler, Margot R.F. Reijnders, Andriy Kazantsev, Fatemeh Hassani Nia, Alexander Bartholom{\"a}us, Victoria Martens, Astrid Bruckmann, Veronika Graus, Allyn McConkie-Rosell, Marie McDonald, Bernarda Lozic, Ee-Shien Tan, Erica Gerkes, Jessika Johannsen, Jonas Denecke, Aida Telegrafi, Evelien Zonneveld-Huijssoon, Henny H. Lemmink, Breana W.M. Cham, Tanja Kovacevic, Linda Ramsdell, Kimberly Foss, Diana Le Duc, Diana Mitter, Steffen Syrbe, Andreas Merkenschlager, Margje Sinnema, Bianca Panis, Joanna Lazier, Matthew Osmond, Taila Hartley, Jeremie Mortreux, Tiffany Busa, Chantal Missirian, Pankaj Prasun, Sabine L{\"u}ttgen, Ilaria Mannucci, Ivana Lessel, Claudia Schob, Stefan Kindler, John Pappas, Rachel Rabin, Marjolein Willemsen, Thatjana Gardeitchik, Katharina L{\"o}hner, Patrick Rump, Kerith-Rae Dias, Carey-Anne Evans, Peter Ian Andrews, Tony Roscioli, Han G. Brunner, Chieko Chijiwa, M.E. Suzanne Lewis, Rami Abou Jamra, David A. Dyment, Kym M. Boycott, Alexander P.A. Stegmann, Christian Kubisch, Ene-Choo Tan, Ghayda M. Mirzaa, Kirsty McWalter, Tjitske Kleefstra, Rolph Pfundt, Zoya Ignatova, Gunter Meister & Hans-J{\"u}rgen Kreienkamp ; Gesehen am 22.01.2021},
  journal={Nature Communications},
  doi={10.1038/s41467-020-19572-5},
}
@article{UBHD-68573896,
  author={Maljevic, Snezana and Vejzovic, Sabina and Bernhard, Matthias K. and Bertsche, Astrid and Weise, Sebastian and D{\"o}cker, Miriam and Lerche, Holger and Lemke, Johannes R. and Merkenschlager, Andreas and Syrbe, Steffen},
  title={Novel KCNQ3 muation in a large family with benign familial neonatal epilepsy},
  subtitle={a rare cause of neonatal seizures},
  year={2016},
  pages={189-196},
  language={eng},
  issn={1661-8777},
  volume={7},
  number={4},
  note={Gesehen am 06.05.2020},
  journal={Molecular syndromology},
  doi={10.1159/000447461},
}
@article{UBHD-69094458,
  author={Maltseva, Margarita and Schubert-Bast, Susanne and Z{\"o}llner, Johann Philipp and Bast, Thomas and Mayer, Thomas and von Spiczak, Sarah and Ruf, Susanne and Trollmann, Regina and Wolff, Markus and Hornemann, Frauke and Klotz, Kerstin A. and Jacobs-LeVan, Julia and Kurlemann, Gerhard and Neubauer, Bernd A. and Polster, Tilman and Syrbe, Steffen and Bertsche, Astrid and Bettendorf, Ulrich and Kluger, Gerhard and Flege, Silke and Rosenow, Felix and Kay, Lara and Strzelczyk, Adam},
  title={Sleep quality, anxiety, symptoms of depression, and caregiver burden among those caring for patients with Dravet syndrome},
  subtitle={a prospective multicenter study in Germany},
  year={2023},
  pages={1-14},
  language={eng},
  issn={1750-1172},
  volume={18(2023) vom: Apr.},
  number={Artikel-ID 98},
  note={Gesehen am 07.07.2023},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-023-02697-3},
}
@article{UBHD-68256030,
  author={Masnada, Silvia and Syrbe, Steffen},
  title={Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies},
  year={2017},
  pages={2337-2354},
  language={eng},
  issn={1460-2156},
  volume={140},
  number={9},
  note={Gesehen am 30.05.2018},
  journal={Brain},
  doi={10.1093/brain/awx184},
}
@article{UBHD-68246603,
  author={Møller, Rikke S. and Syrbe, Steffen},
  title={Mutations in GABRB3},
  subtitle={from febrile seizures to epileptic encephalopathies},
  year={2017},
  pages={483-492},
  language={eng},
  issn={1526-632X},
  volume={88},
  number={5},
  note={Gesehen am 25.04.2018},
  journal={Neurology},
  doi={10.1212/WNL.0000000000003565},
}
@article{UBHD-68421163,
  author={Møller, Rikke S. and Syrbe, Steffen},
  title={Parental mosaicism in epilepsies due to alleged de novo variants},
  year={2019},
  pages={e63-e66},
  language={eng},
  issn={1528-1167},
  volume={60},
  number={6},
  note={Gesehen am 15.08.2019},
  journal={Epilepsia},
  doi={10.1111/epi.15187},
}
@article{UBHD-68784520,
  author={M{\"u}tze, Ulrike and Walter, Magdalena and Keller, Mareike and Gramer, Gwendolyn and Garbade, Sven and Gleich, Florian and Haas, Dorothea and Posset, Roland and Gr{\"u}nert, Sarah C. and Hennermann, Julia B. and Thimm, Eva and Fang-Hoffmann, Junmin and Syrbe, Steffen and Okun, J{\"u}rgen G. and Hoffmann, Georg F. and K{\"o}lker, Stefan},
  title={Health outcomes of infants with vitamin B12 deficiency identified by newborn screening and early treated},
  year={2021},
  pages={42-48},
  language={eng},
  issn={1097-6833},
  volume={235(2021) vom: Aug.},
  note={Im Titel ist die Zahl 12 tiefgestellt ; Gesehen am 29.09.2021},
  journal={The journal of pediatrics},
  doi={10.1016/j.jpeds.2021.02.009},
}
@article{UBHD-68297908,
  author={M{\"u}tze, Ulrike and B{\"u}rger, Friederike and Hoffmann, Jessica and Tegetmeyer, Helmut and Heichel, Jens and Nickel, Petra and Lemke, Johannes and Syrbe, Steffen and Beblo, Skadi},
  title={Multigene panel next generation sequencing in a patient with cherry red macular spot},
  subtitle={Identification of two novel mutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings},
  year={2017},
  pages={1-4},
  language={eng},
  issn={2214-4269},
  volume={10},
  note={Online 1 December 2016 ; Gesehen am 22.08.2018},
  journal={Molecular genetics and metabolism reports},
  doi={10.1016/j.ymgmr.2016.11.004},
}
@article{UBHD-68660807,
  author={O'Donnell-Luria, Anne H. and Syrbe, Steffen},
  title={Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy},
  year={2019},
  pages={1210-1222},
  language={eng},
  issn={1537-6605},
  volume={104},
  number={6},
  note={Gesehen am 13.11.2020},
  journal={The American journal of human genetics},
  doi={10.1016/j.ajhg.2019.03.021},
}
@article{UBHD-68217102,
  author={Pauschek, Josefine and Syrbe, Steffen},
  title={Epilepsy in children and adolescents},
  subtitle={disease concepts, practical knowledge, and coping},
  year={2016},
  pages={77-82},
  language={eng},
  issn={1525-5069},
  volume={59},
  note={Gesehen am 05.02.2018},
  journal={Epilepsy & behavior},
  doi={10.1016/j.yebeh.2016.03.033},
}
@article{UBHD-68421626,
  author={Pauschek, Josefine and Syrbe, Steffen},
  title={Epilepsy in children and adolescents},
  subtitle={disease concepts, practical knowledge, and coping},
  year={2016},
  pages={77-82},
  language={eng},
  issn={1525-5069},
  volume={59},
  note={Gesehen am 16.08.2019},
  journal={Epilepsy & behavior},
  doi={10.1016/j.yebeh.2016.03.033},
}
@article{UBHD-68217101,
  author={Pauschek, Josefine and Syrbe, Steffen},
  title={Response to black R and chin R's letter on our article “Epilepsy in children and adolescents: Disease concepts, practical knowledge, and coping”},
  year={2016},
  pages={312-312},
  language={eng},
  issn={1525-5069},
  volume={62},
  note={Gesehen am 05.02.2018},
  journal={Epilepsy & behavior},
  doi={10.1016/j.yebeh.2016.06.033},
}
@article{UBHD-68716876,
  author={Saffari, Afshin and Ziegler, Andreas and Merkenschlager, Andreas and Kr{\"u}ger, Stefan and K{\"o}lker, Stefan and Hoffmann, Georg F. and Syrbe, Steffen},
  title={Axenfeld-Rieger anomaly and neuropsychiatric problems},
  subtitle={more than meets the eye},
  year={2020},
  pages={192-197},
  language={eng},
  issn={1439-1899},
  volume={51},
  number={03},
  note={Gesehen am 25.03.2021},
  journal={Neuropediatrics},
  doi={10.1055/s-0039-3402037},
}
@article{UBHD-68870948,
  author={Saffari, Afshin and Schr{\"o}ter, Julian and Garbade, Sven and Alecu, Julian E. and Ebrahimi-Fakhari, Darius and Hoffmann, Georg F. and K{\"o}lker, Stefan and Ries, Markus and Syrbe, Steffen},
  title={Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy},
  subtitle={a systematic cross-sectional analysis of 160 published cases},
  year={2022},
  pages={1-13},
  language={eng},
  issn={1554-8635},
  volume={18},
  number={7},
  note={Online ver{\"o}ffentlicht: 24. November 2021 ; Gesehen am 11.10.2022},
  journal={Autophagy},
  doi={10.1080/15548627.2021.1990671},
}
@article{UBHD-68431902,
  author={Saffari, Afshin and Br{\"o}sse, Ines and Tilburg, Cornelis M. van and Hoffmann, Georg F. and K{\"o}lker, Stefan and Witt, Olaf and Milde, Till and Ziegler, Andreas and Syrbe, Steffen},
  title={Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective study},
  year={2019},
  pages={1-13},
  language={eng},
  issn={1750-1172},
  volume={14},
  number={Artikel-ID 96},
  note={Gesehen am 20.09.2019},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-019-1077-6},
  url={https://doi.org/10.1186/s13023-019-1077-6},
  library={UB},
}
@book{UBHD-68412598,
  author={Saffari, Afshin and Br{\"o}sse, Ines and Tilburg, Cornelis M. van and Hoffmann, Georg F. and K{\"o}lker, Stefan and Witt, Olaf and Milde, Till and Ziegler, Andreas and Syrbe, Steffen},
  title={Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age},
  subtitle={a multicenter retrospective study},
  publisher={BioMed Central},
  address={London},
  year={2019},
  pages={1 Online-Ressource},
  language={eng},
  note={In: Orphanet journal of rare diseases, 14 (2019), Nr. 96. pp. 1-13. ISSN 1750-1172},
  url={https://nbn-resolving.org/urn:nbn:de:bsz:16-heidok-264004},
  library={UB},
}
@article{UBHD-69243309,
  author={Sandmann, Christoph and Syrbe, Steffen and Hebe, Joachim and Kreft, Jannis and Stark, Sebastian and Milde, Till and V{\"o}lkers, Mirko and Hoffmann, Georg F. and Gorenflo, Matthias and Kovacevic, Alexander},
  title={Long-term use of everolimus for refractory arrhythmia in a child with tuberous sclerosis complex},
  year={2024},
  pages={1-6},
  language={eng},
  issn={1552-4833},
  volume={194},
  note={Online ver{\"o}ffentlicht: 21. Dezember 2023 ; Gesehen am 14.08.2024},
  journal={American journal of medical genetics},
  doi={10.1002/ajmg.a.63508},
  keywords={Tuber{\"o}se Hirnsklerose},
}
@article{UBHD-69064164,
  author={Schr{\"o}ter, Julian and Dattner, Tal and H{\"u}llein, Jennifer and Jayme, Alejandra and Heuveline, Vincent and Hoffmann, Georg F. and K{\"o}lker, Stefan and Lenz, Dominic and Opladen, Thomas and Popp, Bernt and Schaaf, Christian P. and Staufner, Christian and Syrbe, Steffen and Uhrig, Sebastian and H{\"u}bschmann, Daniel and Brennenstuhl, Heiko},
  title={aRgus: multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment},
  year={2023},
  pages={1077-1083},
  language={eng},
  issn={2001-0370},
  volume={21},
  note={Gesehen am 11.04.2023},
  journal={Computational and structural biotechnology journal},
  doi={10.1016/j.csbj.2023.01.027},
}
@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-69101725,
  author={Schr{\"o}ter, Julian and Syring, Hanna and G{\"o}hring, Gudrun and K{\"o}lker, Stefan and Opladen, Thomas and Hoffmann, Georg F. and Syrbe, Steffen and Jung-Klawitter, Sabine},
  title={Generation of an induced pluripotent stem cell line (DHMCi009-A) from an individual with TUBB2A tubulinopathy},
  year={2022},
  pages={1-5},
  language={eng},
  issn={1876-7753},
  volume={64(2022) vom: Okt.},
  number={Artikel-ID 102879},
  note={Gesehen am 27.07.2023},
  journal={Stem cell research},
  doi={10.1016/j.scr.2022.102879},
  url={https://doi.org/10.1016/j.scr.2022.102879},
  library={UB},
}
@article{UBHD-68976684,
  author={Schr{\"o}ter, Julian and Syring, Hanna and G{\"o}ring, Gudrun and K{\"o}lker, Stefan and Opladen, Thomas and Hoffmann, Georg F. and Syrbe, Steffen and Jung-Klawitter, Sabine},
  title={Generation of an induced pluripotent stem cell line (DHMCi009-A) from an individual with TUBB2A tubulinopathy},
  year={2022},
  pages={1-5},
  language={eng},
  issn={1876-7753},
  volume={64},
  number={Artikel-ID 102879},
  note={Online verf{\"u}gbar 29 July 2022, Version des Artikels 2 August 2022 ; Gesehen am 20.10.2022},
  journal={Stem cell research},
  doi={10.1016/j.scr.2022.102879},
}
@article{UBHD-68938289,
  author={Schr{\"o}ter, Julian and Syring, Hanna and G{\"o}hring, Gudrun and K{\"o}lker, Stefan and Opladen, Thomas and Hoffmann, Georg F. and Syrbe, Steffen and Jung-Klawitter, Sabine},
  title={Generation of an induced pluripotent stem cell line (DHMCi008-A) from an individual with TUBA1A tubulinopathy},
  year={2022},
  pages={1-4},
  language={eng},
  issn={1876-7753},
  volume={62},
  number={Artikel-ID 102818},
  note={Gesehen am 06.07.2022},
  journal={Stem cell research},
  doi={10.1016/j.scr.2022.102818},
  url={https://doi.org/10.1016/j.scr.2022.102818},
  library={UB},
}
@article{UBHD-68997561,
  author={Seiffert, Simone and Pendziwiat, Manuela and Bierhals, Tatjana and Goel, Himanshu and Schwarz, Niklas and Ven, Amelie van der and Boßelmann, Christian Malte and Lemke, Johannes and Syrbe, Steffen and Willemsen, Marjolein Hanna and Hedrich, Ulrike B. S. and Helbig, Ingo and Weber, Yvonne G.},
  title={Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder},
  subtitle={a case series},
  year={2022},
  pages={1-18},
  language={eng},
  issn={2352-3964},
  volume={83(2022) vom: Okt.},
  number={Artikel-ID 104234},
  note={Gesehen am 15.12.2022},
  journal={EBioMedicine},
  doi={10.1016/j.ebiom.2022.104234},
}
@article{UBHD-69112833,
  author={Semino, Francesca and Schr{\"o}ter, Julian and Willemsen, Marjolein H. and Bast, Thomas and Biskup, Saskia and Beck-Woedl, Stefanie and Brennenstuhl, Heiko and Schaaf, Christian P. and K{\"o}lker, Stefan and Hoffmann, Georg F. and Haack, Tobias and Syrbe, Steffen},
  title={Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder},
  year={2021},
  pages={1094-1100},
  language={eng},
  issn={1098-1004},
  volume={42},
  number={9},
  note={Gesehen am 15.08.2023},
  journal={Human mutation},
  doi={10.1002/humu.24245},
  url={https://doi.org/10.1002/humu.24245},
  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-69185097,
  author={Specht, Sabine and Zhukova, Irina and Westhoff, Jens and Erb, Larissa Diana and Ziegler, Andreas and K{\"o}lker, Stefan and Hoffmann, Georg F. and Hagmann, Sébastien and Syrbe, Steffen},
  title={Fat embolism syndrome in Duchenne muscular dystrophy},
  subtitle={report on a novel case and systematic literature review},
  year={2024},
  pages={91-100},
  language={eng},
  issn={1532-2130},
  volume={48(2024) vom: Jan.},
  note={Online verf{\"u}gbar: 6. Dezember 2023, Artikelversion: 13. Dezember 2023 ; Gesehen am 23.02.2024},
  journal={European journal of paediatric neurology},
  doi={10.1016/j.ejpn.2023.11.012},
}
@article{UBHD-68292497,
  author={Spindler, Ulrike and Syrbe, Steffen},
  title={Seizure disorders and developmental disorders},
  subtitle={impact on life of affected families : a structured interview},
  year={2017},
  pages={1121-1129},
  language={eng},
  issn={1432-1076},
  volume={176},
  number={8},
  note={Published online: 9 July 2017 ; Gesehen am 06.08.2018},
  journal={European journal of pediatrics},
  doi={10.1007/s00431-017-2958-0},
}
@article{UBHD-68579321,
  author={Strehlow, Vincent and Syrbe, Steffen},
  title={Generalized epilepsy and myoclonic seizures in 22q11.2 deletion syndrome},
  year={2016},
  pages={239-246},
  language={eng},
  issn={1661-8777},
  volume={7},
  number={4},
  note={Gesehen am 19.05.2020},
  journal={Molecular syndromology},
  doi={10.1159/000448445},
}
@article{UBHD-68635168,
  author={Syrbe, Steffen and Stettner, Georg M. and Bally, Julien and Borggraefe, Ingo and Bien, Corinna I. and Ferfoglia, Ruxandra Iancu and Huppke, Peter and Kern, Jan and Polster, Tilman and Probst-M{\"u}ller, Elisabeth and Schmid, Silvia and Steinfeld, Robert and Strozzi, Susi and Weichselbaum, Annette and Weitz, Marcus and Ziegler, Andreas and Wandinger, Klaus-Peter and Leypoldt, Frank and Bien, Christian G.},
  title={CASPR2 autoimmunity in children expanding to mild encephalopathy with hypertension},
  year={2020},
  pages={e2290-e2301},
  language={eng},
  issn={1526-632X},
  volume={94},
  number={22},
  note={Gesehen am 07.09.2020},
  journal={Neurology},
  doi={10.1212/WNL.0000000000009523},
}
@article{UBHD-68264319,
  author={Syrbe, Steffen and M{\"u}tze, Ulrike and Hoffmann, Georg F. and Korenke, Christoph},
  title={Delineating SPTAN1 associated phenotypes},
  subtitle={from isolated epilepsy to encephalopathy with progressive brain atrophy},
  year={2017},
  pages={2322-2336},
  language={eng},
  issn={1460-2156},
  volume={140},
  number={9},
  note={ Published: 24 August 2017 ; Gesehen am 22.06.2018},
  journal={Brain},
  doi={10.1093/brain/awx195},
}
@article{UBHD-68987836,
  author={Syrbe, Steffen},
  title={Developmental and epileptic encephalopathies},
  subtitle={therapeutic consequences of genetic testing},
  year={2022},
  pages={215-224},
  language={eng},
  issn={1863-5490},
  volume={34},
  number={3},
  note={Gesehen am 22.11.2022},
  journal={Medizinische Genetik},
  doi={10.1515/medgen-2022-2145},
}
@book{UBHD-68509134,
  author={Syrbe, Steffen},
  organization={Universit{\"a}t Heidelberg},
  title={Klinische und funktionelle Charakterisierung monogener Entwicklungsst{\"o}rungen mit Epilepsie und epileptischer Enzephalopathien der Kindheit},
  address={Heidelberg},
  year={2019},
  pages={1 Band (verschiedene Seitenz{\"a}hlungen)},
  language={ger},
  note={Publikationsbasierte Habilitationsschrift bestehend aus einem Text und  Zeitschriftenaufs{\"a}tzen},
  school={Habilitationsschrift,  Ruprecht-Karls-Universit{\"a}t Heidelberg,  2019,  Kumulative Habilitationsschrift},
  library={UB [Signatur: 2020 U 299]},
}
@article{UBHD-68264320,
  author={Syrbe, Steffen and G{\"a}rtner, Ulrich},
  title={M{\"u}ller glial cells of the primate foveola},
  subtitle={an electron microscopical study},
  year={2018},
  pages={110-117},
  language={eng},
  issn={1096-0007},
  volume={167},
  note={Available online: 11 December 2017 ; Gesehen am 22.06.2018},
  journal={Experimental eye research},
  doi={10.1016/j.exer.2017.12.004},
}
@article{UBHD-68580841,
  author={Syrbe, Steffen and M{\"u}tze, Ulrike},
  title={Phenotypic variability from benign infantile epilepsy to Ohtahara syndrome associated with a novel mutation in SCN2A},
  year={2016},
  pages={182-188},
  language={eng},
  issn={1661-8777},
  volume={7},
  number={4},
  note={Gesehen am 26.05.2020},
  journal={Molecular syndromology},
  doi={10.1159/000447526},
}
@article{UBHD-69277297,
  author={Tessarech, Marine and Friocourt, Gaëlle and Marguet, Florent and Lecointre, Maryline and Le Mao, Morgane and Díaz, Rodrigo Muñoz and Mignot, Cyril and Keren, Boris and Héron, Bénédicte and De Bie, Charlotte and Van Gassen, Koen and Loisel, Didier and Delorme, Benoit and Syrbe, Steffen and Klabunde-Cherwon, Annick and Jamra, Rami Abou and Wegler, Meret and Callewaert, Bert and Dheedene, Annelies and Zidane-Marinnes, Merzouka and Guichet, Agnès and Bris, Céline and Van Bogaert, Patrick and Biquard, Florence and Lenaers, Guy and Marcorelles, Pascale and Ferec, Claude and Gonzalez, Bruno and Procaccio, Vincent and Vitobello, Antonio and Bonneau, Dominique and Laquerriere, Annie and Khiati, Salim and Colin, Estelle},
  title={De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity},
  year={2024},
  pages={1-14},
  language={eng},
  issn={1530-0366},
  volume={26},
  note={Online verf{\"u}gbar 27 January 2024, Version des Artikels 12 March 2024 ; Gesehen am 27.11.2024},
  journal={Genetics in medicine},
  doi={10.1016/j.gim.2024.101087},
}
@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-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},
}
@article{UBHD-68878893,
  author={Vetro, Annalisa and Nielsen, Hang N and Holm, Rikke and Hevner, Robert F and Parrini, Elena and Powis, Zoe and Møller, Rikke S and Bellan, Cristina and Simonati, Alessandro and Lesca, Gaétan and Helbig, Katherine L and Palmer, Elizabeth E and Mei, Davide and Ballardini, Elisa and Van Haeringen, Arie and Syrbe, Steffen and Leuzzi, Vincenzo and Cioni, Giovanni and Curry, Cynthia J and Costain, Gregory and Santucci, Margherita and Chong, Karen and Mancini, Grazia M S and Clayton-Smith, Jill and Bigoni, Stefania and Scheffer, Ingrid E and Dobyns, William B and Vilsen, Bente and Guerrini, Renzo},
  title={ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria},
  year={2021},
  pages={1435-1450},
  language={eng},
  issn={1460-2156},
  volume={144},
  number={5},
  note={Gesehen am 16.02.2022},
  journal={Brain},
  doi={10.1093/brain/awab052},
}
@article{UBHD-69010962,
  author={Wegler, Meret and Jia, Xiangbin and Alders, Marielle and Bouman, Arjan and Chen, Jia and Duan, Xinyu and Lauzon, Julie L. and Mathijssen, Inge B. and Sticht, Heinrich and Syrbe, Steffen and Tan, Senwei and Guo, Hui and Abou Jamra, Rami},
  title={De novo variants in the PABP domain of PABPC1 lead to developmental delay},
  year={2022},
  pages={1761-1773},
  language={eng},
  issn={1530-0366},
  volume={24},
  number={8 vom: Aug.},
  note={Gesehen am 27.01.2023},
  journal={Genetics in medicine},
  doi={10.1016/j.gim.2022.04.013},
}
@article{UBHD-68872114,
  author={Willems, Laurent and Schubert-Bast, Susanne and Grau, Janina and Hertzberg, Christoph and Kurlemann, Gerhard and Wiemer-Kruel, Adelheid and Bast, Thomas and Bertsche, Astrid and Bettendorf, Ulrich and Fiedler, Barbara and Hahn, Andreas and Hartmann, Hans and Hornemann, Frauke and Immisch, Ilka and Jacobs, Julia and Kieslich, Matthias and Klein, Karl Martin and Klotz, Kerstin A. and Kluger, Gerhard and Knuf, Markus and Mayer, Thomas and Marquard, Klaus and Meyer, Sascha and Muhle, Hiltrud and M{\"u}ller-Schl{\"u}ter, Karen and Noda, Anna H. and Ruf, Susanne and Sauter, Matthias and Schlump, Jan-Ulrich and Syrbe, Steffen and Thiels, Charlotte and Trollmann, Regina and Wilken, Bernd and Z{\"o}llner, Johann Philipp and Rosenow, Felix and Strzelczyk, Adam},
  title={Health-related quality of life in children and adolescents with tuberous sclerosis complex and their caregivers},
  subtitle={a multicentre cohort study from Germany},
  year={2021},
  pages={111-122},
  language={eng},
  issn={1532-2130},
  volume={35},
  note={Gesehen am 29.01.2022},
  journal={European journal of paediatric neurology},
  doi={10.1016/j.ejpn.2021.10.003},
}
@article{UBHD-69313273,
  author={Wojcik, Monica H. and Lemire, Gabrielle and Berger, Eva and Zaki, Maha S. and Wissmann, Mariel and Win, Wathone and White, Susan M. and Weisburd, Ben and Wieczorek, Dagmar and Waddell, Leigh B. and Verboon, Jeffrey M. and VanNoy, Grace E. and T{\"o}pf, Ana and Tan, Tiong Yang and Syrbe, Steffen and Strehlow, Vincent and Straub, Volker and Stenton, Sarah L. and Snow, Hana and Singer-Berk, Moriel and Silver, Josh and Shril, Shirlee and Seaby, Eleanor G. and Schneider, Ronen and Sankaran, Vijay G. and Sanchis-Juan, Alba and Russell, Kathryn A. and Reinson, Karit and Ravenscroft, Gianina and Radtke, Maximilian and Popp, Denny and Polster, Tilman and Platzer, Konrad and Pierce, Eric A. and Place, Emily M. and Pajusalu, Sander and Pais, Lynn and Õunap, Katrin and Osei-Owusu, Ikeoluwa and Opperman, Henry and Okur, Volkan and Oja, Kaisa Teele and O’Leary, Melanie and O’Heir, Emily and Morel, Chantal F. and Merkenschlager, Andreas and Marchant, Rhett G. and Mangilog, Brian E. and Madden, Jill A. and MacArthur, Daniel and Lovgren, Alysia and Lerner-Ellis, Jordan P. and Lin, Jasmine and Laing, Nigel and Hildebrandt, Friedhelm and Hentschel, Julia and Groopman, Emily and Goodrich, Julia and Gleeson, Joseph G. and Ghaoui, Roula and Genetti, Casie A. and Gburek-Augustat, Janina and Gazda, Hanna T. and Ganesh, Vijay S. and Ganapathi, Mythily and Gallacher, Lyndon and Fu, Jack M. and Evangelista, Emily and England, Eleina and Donkervoort, Sandra and DiTroia, Stephanie and Cooper, Sandra T. and Chung, Wendy K. and Christodoulou, John and Chao, Katherine R. and Cato, Liam D. and Bujakowska, Kinga M. and Bryen, Samantha J. and Brand, Harrison and B{\"o}nnemann, Carsten G. and Beggs, Alan H. and Baxter, Samantha M. and Bartolomaeus, Tobias and Agrawal, Pankaj B. and Talkowski, Michael and Austin-Tse, Christina and Jamra, Rami Abou and Rehm, Heidi L. and O’Donnell-Luria, Anne},
  title={Genome sequencing for diagnosing rare diseases},
  year={2024},
  pages={1985-1997},
  language={eng},
  issn={1533-4406},
  volume={390},
  number={21},
  note={Gesehen am 27.02.2025},
  journal={The New England journal of medicine},
  doi={10.1056/NEJMoa2314761},
}
@article{UBHD-69318547,
  author={Wortmann, Saskia B. and Feichtinger, Rene G. and Abela, Lucia and van Gemert, Loes A. and Aubart, Mélodie and Dufeu-Berat, Claire-Marine and Boddaert, Nathalie and de Coo, Rene and St{\"u}hn, Lara and Hebbink, Jasmijn and Heinritz, Wolfram and Hildebrandt, Julia and Himmelreich, Nastassja and Korenke, Christoph and Lehman, Anna and Leyland, Thomas and Makowski, Christine and Martinez Marin, Rafael Jenaro and Marzin, Pauline and M{\"u}hlhausen, Chris and Rio, Marlène and Rotig, Agnes and Roux, Charles-Joris and Schiff, Manuel and Haack, Tobias B. and Syrbe, Steffen and Zylicz, Stas A. and Thiel, Christian and Veiga da Cunha, Maria and van Schaftingen, Emile and Wagner, Matias and Mayr, Johannes A. and Wevers, Ron A. and Boltshauser, Eugen and Willemsen, Michel A.},
  title={Clinical, neuroimaging, and metabolic footprint of the neurodevelopmental disorder caused by monoallelic HK1 variants},
  year={2024},
  pages={1-13},
  language={eng},
  issn={2376-7839},
  volume={10},
  note={Gesehen am 14.03.2025},
  journal={Neurology},
  doi={10.1212/NXG.0000000000200146},
}
@article{UBHD-68571211,
  author={XiangWei, Wenshu and Kannan, Varun and Xu, Yuchen and Kosobucki, Gabrielle J. and Schulien, Anthony J. and Kusumoto, Hirofumi and Moufawad El Achkar, Christelle and Bhattacharya, Subhrajit and Lesca, Gaetan and Nguyen, Sylvie and Helbig, Katherine L. and Cuisset, Jean-Marie and Fenger, Christina D{\"u}hring and Marjanovic, Dragan and Schuler, Elisabeth and Wu, Ye and Bao, Xinhua and Zhang, Yuehua and Dirkx, Nina and Schoonjans, An-Sofie and Syrbe, Steffen and Myers, Scott J. and Poduri, Annapurna and Aizenman, Elias and Traynelis, Stephen F. and Lemke, Johannes and Yuan, Hongjie and Jiang, Yuwu},
  title={Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy},
  year={2019},
  pages={3009-3027},
  language={eng},
  issn={1460-2156},
  volume={142},
  number={10},
  note={Gesehen am 28.04.2020},
  journal={Brain},
  doi={10.1093/brain/awz232},
}
@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},
}