heiBIB: Syrbe, Steffen

Syrbe, Steffen Prof. Dr. med.Universität HeidelbergHeidelberg

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Publications in heiBIB

Driedger, Jan Henje: 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 : study protocol / Jan H. Driedger, Julian Schröter, Christoph Hertzberg, Bernhard Weschke, Angela M. Kaindl, Thomas Lü… , 06 January 2025. - 10 S.
In: Orphanet journal of rare diseases, ISSN 1750-1172. 20(2025), 1, Artikel-ID 2, Seite 1-10
DOI: 10.1186/s13023-024-03495-1
Wortmann, Saskia B.: Clinical, neuroimaging, and metabolic footprint of the neurodevelopmental disorder caused by monoallelic HK1 variants / Saskia B. Wortmann, MD, PhD, Rene G. Feichtinger, PhD, Lucia Abela, MD, Loes A. van Gemert, MD, M´el… , April 5, 2024. - 13 S. : Illustrationen
In: Neurology, ISSN 2376-7839. 10(2024), 2 vom: Apr., Artikel-ID e200146, Seite 1-13
DOI: 10.1212/NXG.0000000000200146
Issa, Mohammed: The association of COVID-19 pandemic with the increase of sinogenic and otogenic intracranial infections in children : a 10-year retrospective comparative single-center study / Mohammed Issa, Vasiliki Kalliri, Sara Euteneuer, Arne Krümpelmann, Angelika Seitz, Olaf Sommerburg, … , 07 May 2024. - 10 S.
In: Neurosurgical review, ISSN 1437-2320. 47(2024), 1 vom: Dez., Artikel-ID 205, Seite 1-10
DOI: 10.1007/s10143-024-02442-9
Wojcik, Monica H.: Genome sequencing for diagnosing rare diseases / Monica H. Wojcik, Gabrielle Lemire, Eva Berger, Maha S. Zaki, Mariel Wissmann, Wathone Win, Susan M.… , June 6, 2024. - 13 S. : Illustrationen
In: The New England journal of medicine, ISSN 1533-4406. 390(2024), 21, Seite 1985-1997
DOI: 10.1056/NEJMoa2314761
Cuccurullo, Claudia: Clinical features and genotype-phenotype correlations in epilepsy patients with de novo variants / Claudia Cuccurullo, Steffen Syrbe, Elisabeth Schuler [und viele weitere], September 2024. - 23 S. : Illustrationen
In: Epilepsia, ISSN 1528-1167. 65(2024), 9, Seite 2728-2750
DOI: 10.1111/epi.18054
Urban, Oliver Y.: Systematic quantitative modeling of the natural history of Aicardi syndrome : a cross sectional study of 245 published cases / Oliver Y. Urban, Jan H. Driedger, Sven F. Garbade, Georg F. Hoffmann, Stefan Kölker, Markus Ries and… , 04 December 2024. - 11 S. : Illustrationen
In: Orphanet journal of rare diseases, ISSN 1750-1172. 19(2024), Artikel-ID 457, Seite 1-11
DOI: 10.1186/s13023-024-03375-8
Tessarech, Marine: De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity / Marine Tessarech, Gaëlle Friocourt, Florent Marguet, Maryline Lecointre, Morgane Le Mao, Rodrigo Muñ… , May 2024. - 14 S. : Illustrationen, Diagramme
In: Genetics in medicine, ISSN 1530-0366. 26(2024), 5 vom: Mai, Artikel-ID 101087, Seite 1-14
DOI: 10.1016/j.gim.2024.101087
Thalwitzer, Kim M.: Early life seizures and epileptic spasms in -related disorders / Kim M. Thalwitzer, Julie Xian, Danielle de Campo, Shridhar Parthasarathy, Jan Magielski, Katie R. Su… , 27 January 2024. - 12 S.
In: Epilepsia, ISSN 1528-1167. 65(2024), 3, Seite 805-816
DOI: 10.1111/epi.17886
Sandmann, Christoph: Long-term use of everolimus for refractory arrhythmia in a child with tuberous sclerosis complex / Christoph Hofmann, Steffen Syrbe, Joachim Hebe, Jannis Kreft, Sebastian Stark, Till Milde, Mirko Völ… , 2024. - 6 S. : Illustrationen, Diagramme
In: American journal of medical genetics, ISSN 1552-4833. 194(2024), 5, Artikel-ID e63508, Seite 1-6
DOI: 10.1002/ajmg.a.63508
Kalm, Tassja: Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity / Tassja Kalm, Claudia Schob, Hanna Völler, Thatjana Gardeitchik, Christian Gilissen, Rolph Pfundt, Ch… , May 20, 2024. - 17 S.
In: The American journal of human genetics, ISSN 1537-6605. 111(2024), 6 vom: Juni, Seite 1206-1221
DOI: 10.1016/j.ajhg.2024.04.019
Specht, Sabine: Fat embolism syndrome in Duchenne muscular dystrophy : report on a novel case and systematic literature review / Sabine Specht, Irina Zhukova, Jens H. Westhoff, Larissa Erb, Andreas Ziegler, Stefan Kölker, Georg F… , January 2024. - 10 S. : Illustrationen
In: European journal of paediatric neurology, ISSN 1532-2130. 48(2024) vom: Jan., Seite 91-100
DOI: 10.1016/j.ejpn.2023.11.012
Xian, Julie: Delineating clinical and developmental outcomes in STXBP1-related disorders / Julie Xian, Kim Marie Thalwitzer, Jillian McKee, Katie Rose Sullivan, Elise Brimble, Eryn Fitch, Jon… , December 2023. - 16 S. : Illustrationen
In: Brain, ISSN 1460-2156. 146(2023), 12 vom: Dez., Seite 5182-5197
DOI: 10.1093/brain/awad287
Thalwitzer, Kim M.: Natural history and developmental trajectories of individuals with disease-causing variants in STXBP1 / Kim M. Thalwitzer, Jan H. Driedger, Julie Xian, Afshin Saffari, Pia Zacher, Bigna K. Bölsterli, Sara… , July 05, 2023. - 13 S.
In: Neurology, ISSN 1526-632X. 101(2023), 9, Seite e879-e891
DOI: 10.1212/WNL.0000000000207550
Maltseva, Margarita: Sleep quality, anxiety, symptoms of depression, and caregiver burden among those caring for patients with Dravet syndrome : a prospective multicenter study in Germany / Margarita Maltseva, Susanne Schubert-Bast, Johann Philipp Zöllner, Thomas Bast, Thomas Mayer, Sarah … , 29 April 2023. - 14 S.
In: Orphanet journal of rare diseases, ISSN 1750-1172. 18(2023) vom: Apr., Artikel-ID 98, Seite 1-14
DOI: 10.1186/s13023-023-02697-3
Schröter, Julian: aRgus: multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment / Julian Schroeter, Tal Dattner, Jennifer Huellein, Alejandra Jayme, Vincent Heuveline, Georg F. Hoffm… , 2023. - 7 S.
In: Computational and structural biotechnology journal, ISSN 2001-0370. 21(2023), Seite 1077-1083
DOI: 10.1016/j.csbj.2023.01.027
Schröter, Julian: Generation of an induced pluripotent stem cell line (DHMCi009-A) from an individual with TUBB2A tubulinopathy / Julian Schröter, Hanna Syring, Gudrun Göhring, Stefan Kölker, Thomas Opladen, Georg F. Hoffmann, Ste… , 2022. - 5 S.
In: Stem cell research, ISSN 1876-7753. 64(2022) vom: Okt., Artikel-ID 102879, Seite 1-5
DOI: 10.1016/j.scr.2022.102879
Schröter, Julian: Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies / Julian Schröter, Bernt Popp, Heiko Brennenstuhl, Jan H. Döring, Stephany H. Donze, Emilia K. Bijlsma… , 11 January 2022. - 9 S.
In: European journal of human genetics, ISSN 1476-5438. 30(2022), 3, Seite 298-306
DOI: 10.1038/s41431-021-01027-0
Brunklaus, Andreas: The gain of function SCN1A disorder spectrum : novel epilepsy phenotypes and therapeutic implications / Andreas Brunklaus, Tobias Brünger, Tony Feng, Carmen Fons, Anni Lehikoinen, Eleni Panagiotakaki, Mih… , 13 June 2022. - 16 S.
In: Brain, ISSN 1460-2156. 145(2022), 11 vom: Juni, Seite 3816-3831
DOI: 10.1093/brain/awac210
Wegler, Meret: De novo variants in the PABP domain of PABPC1 lead to developmental delay / Meret Wegler, Xiangbin Jia, Marielle Alders, Arjan Bouman, Jia Chen, Xinyu Duan, Julie L. Lauzon, In… , 5 August 2022. - 13 S.
In: Genetics in medicine, ISSN 1530-0366. 24(2022), 8 vom: Aug., Seite 1761-1773
DOI: 10.1016/j.gim.2022.04.013
Driedger, Jan Henje: Efficacy, tolerability, and retention of antiseizure medications in PRRT2-associated infantile epilepsy / Jan H. Döring, Afshin Saffari, Thomas Bast, Knut Brockmann, Laura Ehrhardt, Walid Fazeli, Wibke G. J… , [October 2022]. - 11 S. : Diagramme
In: Neurology, ISSN 2376-7839. 8(2022), 5 vom: Okt., Seite 1-11
DOI: 10.1212/NXG.0000000000200020
Seiffert, Simone: Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder : a case series / Simone Seiffert, Manuela Pendziwiat, Tatjana Bierhals, Himanshu Goel, Niklas Schwarz, Amelie van der… , 24 August 2022. - 18 S.
In: EBioMedicine, ISSN 2352-3964. 83(2022) vom: Okt., Artikel-ID 104234, Seite 1-18
DOI: 10.1016/j.ebiom.2022.104234
Syrbe, Steffen: Developmental and epileptic encephalopathies : therapeutic consequences of genetic testing / Steffen Syrbe, 22. September 2022. - 10 S.
In: Medizinische Genetik, ISSN 1863-5490. 34(2022), 3, Seite 215-224
DOI: 10.1515/medgen-2022-2145
Bölsterli Heinzle, Bigna: Ketogenic diet treatment of defects in the mitochondrial malate aspartate shuttle and pyruvate carrier / Bigna K. Bölsterli, Eugen Boltshauser, Luigi Palmieri, Johannes Spenger, Michaela Brunner-Krainz, Fe… , 31 August 2022. - 30 S.
In: Nutrients, ISSN 2072-6643. 14(2022), 17, Artikel-ID 3605, Seite 1-30
DOI: 10.3390/nu14173605
Schröter, Julian: Generation of an induced pluripotent stem cell line (DHMCi009-A) from an individual with TUBB2A tubulinopathy / JulianSchröter, Hanna Syring, Gudrun Göhring, Stefan Kölker, Thomas Opladen, Georg F. Hoffmann, Stef… , 2 August 2022. - 5 S.
In: Stem cell research, ISSN 1876-7753. 64(2022), Artikel-ID 102879, Seite 1-5
DOI: 10.1016/j.scr.2022.102879
Boßelmann, Christian Malte: Genetic testing before epilepsy surgery : an exploratory survey and case collection from German epilepsy centers / Christian Malte Boßelmann, Victoria San Antonio-Arce, Andreas Schulze-Bonhage, Susanne Fauser, Pia Z… , February 2022. - 7 S.
In: Seizure, ISSN 1532-2688. 95(2022) vom: Feb., Seite 4-10
DOI: 10.1016/j.seizure.2021.12.004
Schröter, Julian: Generation of an induced pluripotent stem cell line (DHMCi008-A) from an individual with TUBA1A tubulinopathy / Julian Schröter, Hanna Syring, Gudrun Göhring, Stefan Kölker, Thomas Opladen, Georg F. Hoffmann, Ste… , 24 May 2022. - 4 S.
In: Stem cell research, ISSN 1876-7753. 62(2022), Artikel-ID 102818, Seite 1-4
DOI: 10.1016/j.scr.2022.102818
Saffari, Afshin: Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy : a systematic cross-sectional analysis of 160 published cases / Afshin Saffari, Julian Schröter, Sven F. Garbade, Julian E. Alecu, Darius Ebrahimi-Fakhari, Georg F.… , 2022. - 13 S.
In: Autophagy, ISSN 1554-8635. 18(2022), 7, Seite 1-13
DOI: 10.1080/15548627.2021.1990671
Begemann, Anaïs: New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics / Anaïs Begemann, Heinrich Sticht, Amber Begtrup, Antonio Vitobello, Laurence Faivre, Siddharth Banka,… , March 2021. - 12 S. : Illustrationen
In: Genetics in medicine, ISSN 1530-0366. 23(2021), 3 vom: März, Seite 543-554
DOI: 10.1038/s41436-020-01011-x
Semino, Francesca: Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder / Francesca Semino, Julian Schröter, Marjolein H. Willemsen, Thomas Bast, Saskia Biskup, Stefanie Beck… , 2021. - 7 S. : Illustrationen
In: Human mutation, ISSN 1098-1004. 42(2021), 9, Seite 1094-1100
DOI: 10.1002/humu.24245
Bonardi, Claudia M.: KCNT1-related epilepsies and epileptic encephalopathies : phenotypic and mutational spectrum / Claudia M. Bonardi, Henrike O. Heyne, Martina Fiannacca, Mark P. Fitzgerald, Elena Gardella, Boudewi… , June 11, 2021. - 16 S.
In: Brain, ISSN 1460-2156. 144(2021), 12 vom: Dez., Seite 3635-3650
DOI: 10.1093/brain/awab219
Bayat, Allan: Deep-phenotyping the less severe spectrum of PIGT deficiency and linking the gene to myoclonic atonic seizures / Allan Bayat, Manuela Pendziwiat, Ewa Obersztyn, Paula Goldenberg, Pia Zacher, Jan Henje Döring, Stef… , 11 May 2021. - 12 S.
In: Frontiers in genetics, ISSN 1664-8021. 12(2021), Artikel-ID 663643, Seite 1-12
Vetro, Annalisa: ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria / Annalisa Vetro, Hang N Nielsen, Rikke Holm, Robert F. Hevner, Elena Parrini, Zoe Powis, Rikke S. Møl… , May 10, 2021. - 16 S.
In: Brain, ISSN 1460-2156. 144(2021), 5, Seite 1435-1450
DOI: 10.1093/brain/awab052
Willems, Laurent: Health-related quality of life in children and adolescents with tuberous sclerosis complex and their caregivers : a multicentre cohort study from Germany / Laurent M. Willems, Susanne Schubert-Bast, Janina Grau, Christoph Hertzberg, Gerhard Kurlemann, Adel… , 7 October 2021. - 12 S.
In: European journal of paediatric neurology, ISSN 1532-2130. 35(2021), Seite 111-122
DOI: 10.1016/j.ejpn.2021.10.003
Krey, Ilona: The Angelman Syndrome Online Registry - a multilingual approach to support global research / Ilona Krey, Constanze Heine, Marcel Frömming, Julia Herrmann, Rikke S. Møller, Sarah Weckhuysen, Car… , 4 October 2021. - 5 S.
In: European journal of medical genetics, ISSN 1878-0849. 64(2021), 12, Artikel-ID 104349, Seite 1-5
DOI: 10.1016/j.ejmg.2021.104349
Mütze, Ulrike: Health outcomes of infants with vitamin B12 deficiency identified by newborn screening and early treated / Ulrike Mütze, MD, Magdalena Walter, PhD, Mareike Keller, MSc, Gwendolyn Gramer, MD, Sven F. Garbade,… , 11 February 2021. - 7 S.
In: The journal of pediatrics, ISSN 1097-6833. 235(2021) vom: Aug., Seite 42-48
DOI: 10.1016/j.jpeds.2021.02.009
Grau, Janina: Direct and indirect costs and cost-driving factors of Tuberous sclerosis complex in children, adolescents, and caregivers : a multicenter cohort study / Janina Grau, Johann Philipp Zöllner, Susanne Schubert-Bast, Gerhard Kurlemann, Christoph Hertzberg, … , 21 June 2021. - 16 S.
In: Orphanet journal of rare diseases, ISSN 1750-1172. 16(2021), Artikel-ID 282, Seite 1-16
DOI: 10.1186/s13023-021-01899-x
Driedger, Jan Henje: Refining genotypes and phenotypes in KCNA2-related neurological disorders / Jan H. Döring, Julian Schröter, Jerome Jüngling, Saskia Biskup, Kerstin A. Klotz, Thomas Bast, Tobia… , 10 March 2021
In: International journal of molecular sciences, ISSN 1422-0067. 22(2021), 6, Artikel-ID 2824, Seite 1-16
DOI: 10.3390/ijms22062824
Sonnek, Benedikt: Clinical spectrum and treatment outcome of 95 children with continuous spikes and waves during sleep (CSWS) / Benedikt Sonnek, Jan Henje Döring, Ulrike Mütze, Susanne Schubert-Bast, Thomas Bast, Doreen Balke, G… , 2021. - 7 S.
In: European journal of paediatric neurology, ISSN 1532-2130. 30(2021), Seite 121-127
DOI: 10.1016/j.ejpn.2020.10.010
Schröter, Julian: Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies / Julian Schröter, MD, Jan H. Döring, MD, Sven F. Garbade, PhD, Georg F. Hoffmann, MD, Stefan Kölker, … , 2021. - 8 S.
In: Genetics in medicine, ISSN 1530-0366. 23(2021), 3, Seite 516-523
DOI: 10.1038/s41436-020-01001-z
Ademuwagun, Ibitayo Abigail: Voltage gated sodium channel genes in epilepsy : mutations, functional studies, and treatment dimensions / Ibitayo Abigail Ademuwagun, Solomon Oladapo Rotimi, Steffen Syrbe, Yvonne Ukamaka Ajamma and Ezekiel… , 24 March 2021. - 19 S.
In: Frontiers in neurology, ISSN 1664-2295. 12(2021) vom: März, Artikel-ID 600050, Seite 1-19
DOI: 10.3389/fneur.2021.600050
Saffari, Afshin: Axenfeld-Rieger anomaly and neuropsychiatric problems : more than meets the eye / Afshin Saffari, Andreas Ziegler, Andreas Merkenschlager, Stefan Krüger, Stefan Kölker, Georg Friedri… , 11. Februar 2020. - 6 S.
In: Neuropediatrics, ISSN 1439-1899. 51(2020), 03, Seite 192-197
DOI: 10.1055/s-0039-3402037
Jarius, Sven: Cerebrospinal fluid findings in patients with myelin oligodendrocyte glycoprotein (MOG) antibodies. Part 2 : results from 108 lumbar punctures in 80 pediatric patients / Sven Jarius, Christian Lechner, Eva M. Wendel, Matthias Baumann, Markus Breu, Mareike Schimmel, Mich… , 03 September 2020. - 28 S.
In: Journal of neuroinflammation, ISSN 1742-2094. 17(2020) Artikel-Nummer 262, 28 Seiten
DOI: 10.1186/s12974-020-01825-1
Driedger, Jan Henje: The phenotypic spectrum of PRRT2-associated paroxysmal neurologic disorders in childhood / Jan Henje Döring, Afshin Saffari, Thomas Bast, Knut Brockmann, Laura Ehrhardt, Walid Fazeli, Wibke G… , 28 October 2020. - 14 S.
In: Biomedicines, ISSN 2227-9059. 8(2020), 11, Artikel-ID 456, Seite 1-14
DOI: 10.3390/biomedicines8110456
Lessel, Davor: Germline AGO2 mutations impair RNA interference and human neurological development / Davor Lessel et al., 16 November 2020. - 14 S.
In: Nature Communications, ISSN 2041-1723. 11(2020) Artikel-Nummer 5797, 14 Seiten
DOI: 10.1038/s41467-020-19572-5
Klotz, Kerstin A.: Expectations and knowledge of cannabidiol therapy for childhood epilepsy : a German caregiver survey / Kerstin Alexandra Klotz, Jan Schönberger, Lea Nakamura, Victoria San Antonio-Arce, Thomas Bast, Adel… , 6 July 2020. - 6 S.
In: Epilepsy & behavior, ISSN 1525-5069. 111(2020), Artikel-ID 107268, Seite 1-6
DOI: 10.1016/j.yebeh.2020.107268
Heyne, Henrike: Predicting functional effects of missense variants in voltage-gated sodium and calcium channels / Henrike O. Heyne, David Baez-Nieto, Sumaiya Iqbal, Duncan S. Palmer, Andreas Brunklaus, Patrick May,… , 12 August 2020. - 16 S.
In: Science translational medicine, ISSN 1946-6242. 12(2020,556) Artikel-Nummer eaay6848, 16 Seiten
DOI: 10.1126/scitranslmed.aay6848
Syrbe, Steffen: CASPR2 autoimmunity in children expanding to mild encephalopathy with hypertension / Steffen Syrbe, MD, Georg M. Stettner, MD, Julien Bally, MD, Ingo Borggraefe, MD, Corinna I. Bien, MD… , May 18, 2020. - 12 S.
In: Neurology, ISSN 1526-632X. 94(2020), 22, Seite e2290-e2301
DOI: 10.1212/WNL.0000000000009523
O'Donnell-Luria, Anne H.: Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy / Anne H. O’Donnell-Luria, Lynn S. Pais, Víctor Faundes, Jordan C. Wood, Abigail Sveden, Victor Luria,… , June 6, 2019. - 7 S.
In: The American journal of human genetics, ISSN 1537-6605. 104(2019), 6, Seite 1210-1222
DOI: 10.1016/j.ajhg.2019.03.021
Krey, Ilona: Genotype-phenotype correlation on 45 individuals with West syndrome / Ilona Krey, Janna Krois-Neudenberger, Julia Hentschel, Steffen Syrbe, Tilman Polster, Britta Hanker,… , 2020. - 5 S.
In: European journal of paediatric neurology, ISSN 1532-2130. 25(2020), Seite 134-138
DOI: 10.1016/j.ejpn.2019.11.010
Brennenstuhl, Heiko: High throughput newborn screening for aromatic ʟ-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots / Heiko Brennenstuhl, Dirk Kohlmüller, Gwendolyn Gramer, Sven F. Garbade, Steffen Syrbe, Patrik Feyh, … , 2020. - 9 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 43(2020), 3, Seite 602-610
DOI: 10.1002/jimd.12208
XiangWei, Wenshu: Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy / Wenshu XiangWei, Varun Kannan, Yuchen Xu, Gabrielle J. Kosobucki, Anthony J. Schulien, Hirofumi Kusu… , August 31, 2019. - 19 S.
In: Brain, ISSN 1460-2156. 142(2019), 10, Seite 3009-3027
DOI: 10.1093/brain/awz232
Syrbe, Steffen: Klinische und funktionelle Charakterisierung monogener Entwicklungsstörungen mit Epilepsie und epileptischer Enzephalopathien der Kindheit / vorgelegt von Dr. med Steffen Syrbe. -
Heidelberg, 2019. - 1 Band (verschiedene Seitenzählungen) : Illustrationen, Diagramme
Le Duc, Diana: Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size / Diana Le Duc, Cecilia Giulivi, Susan M. Hiatt, Eleonora Napoli, Alexios Panoutsopoulos, Angelo Harla… , July 20, 2019. - 14 S.
In: Brain, ISSN 1460-2156. 142(2019), 9, Seite 2617-2630
DOI: 10.1093/brain/awz198
Fitzgerald, Mark P.: Treatment responsiveness in KCNT1-related epilepsy / Mark P. Fitzgerald, Martina Fiannacca, Douglas M. Smith, Tracy S. Gertler, Boudewijn Gunning, Steffe… , 03 May 2019. - 10 S.
In: Neurotherapeutics, ISSN 1878-7479. 16(2019), 3, Seite 848-857
DOI: 10.1007/s13311-019-00739-y
Saffari, Afshin: Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective study / Afshin Saffari, Ines Brösse, Adelheid Wiemer-Kruel, Bernd Wilken, Paula Kreuzaler, Andreas Hahn, Mat… , 03 May 2019. - 13 S.
In: Orphanet journal of rare diseases, ISSN 1750-1172. 14(2019), Artikel-ID 96, Seite 1-13
DOI: 10.1186/s13023-019-1077-6
Møller, Rikke S.: Parental mosaicism in epilepsies due to alleged de novo variants / Rikke S. Møller, Nora Liebmann, Line H.G. Larsen, Mathias Stiller, Julia Hentschel, Nahrain Kako, Da… , 11 May 2019. - 4 S.
In: Epilepsia, ISSN 1528-1167. 60(2019), 6, Seite e63-e66
DOI: 10.1111/epi.15187
Saffari, Afshin: Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age : a multicenter retrospective study / Afshin Saffari, Ines Brösse, Adelheid Wiemer-Kruel, Bernd Wilken, Paula Kreuzaler, Andreas Hahn, Mat… . -
London: BioMed Central, 2019. - 1 Online-Ressource
Bach, Vivien Angela: How do parents perceive adverse drug events of their children's anticonvulsant medication? / V.A. Bach, M.P. Neininger, U.P. Spindler, L.C. Hotopp, F. Hornemann, S. Syrbe, A. Merkenschlager, W.… , 9 February 2018. - 6 S.
In: European journal of paediatric neurology, ISSN 1532-2130. 22(2018), 3, Seite 427-433
DOI: 10.1016/j.ejpn.2018.01.027
Danhauser, Katharina: Bi-allelic ADPRHL2 mutations cause neurodegeneration with developmental delay, ataxia, and axonal neuropathy / Katharina Danhauser, Bader Alhaddad, Christine Makowski, Dorota Piekutowska-Abramczuk, Steffen Syrbe… , 1 November 2018. - 9 S.
In: The American journal of human genetics, ISSN 1537-6605. 103(2018), 5, Seite 817-825
DOI: 10.1016/j.ajhg.2018.10.005
Hotopp, Lena Charlott: How do parents perceive the initial medical consultation on their child’s developmental disorder? / Lena Charlott Hotopp, Ulrike Petra Spindler, Vivien Angela Bach, Frauke Hornemann, Steffen Syrbe, An… , 2018. - 6 S.
In: Klinische Pädiatrie, ISSN 1439-3824. 230(2018), 01, Seite 44-49
DOI: 10.1055/s-0043-117960
Bringmann, Andreas: The primate fovea : structure, function and development / Andreas Bringmann, Steffen Syrbe, Katja Görner, Johannes Kacza, Mike Francke, Peter Wiedemann, Andre… , 30 March 2018. - 36 S.
In: Progress in retinal and eye research, ISSN 1873-1635. 66(2018), Seite 49-84
DOI: 10.1016/j.preteyeres.2018.03.006
Bernhard, Matthias K.: Sweaty feet in adolescents : early use of botulinum type A toxin in juvenile plantar hyperhidrosis / Matthias K. Bernhard, Matthias Krause, Steffen Syrbe, 04 September 2018. - 3 S.
In: Pediatric dermatology, ISSN 1525-1470. 35(2018), 6, Seite 784-786
DOI: 10.1111/pde.13628
Bertsche, Thilo: Interdisziplinäre Konzepte von Pädiatrie und Klinischer Pharmazie zur Optimierung der Antikonvulsivatherapie : = / Thilo Bertsche, Martina Patrizia Neininger, Almuth Kaune, Pia M. Schumacher, Henriette K. Dumeier, M… , 2018. - 8 S.
In: Klinische Pädiatrie, ISSN 1439-3824. 230(2018), 1, Seite 5-12
DOI: 10.1055/s-0043-120525
Kovel, Carolien de: Neurodevelopmental disorders caused by de novo variants in KCNB1 genotypes and phenotypes / Carolien G.F. de Kovel, Steffen Syrbe, Eva H. Brilstra, Nienke Verbeek, Bronwyn Kerr, Holly Dubbs, A… , August 14, 2017. - 9 S.
In: JAMA neurology, ISSN 2168-6157. 74(2017), 10, Seite 1228-1236
DOI: 10.1001/jamaneurol.2017.1714
Spindler, Ulrike: Seizure disorders and developmental disorders : impact on life of affected families : a structured interview / Ulrike Petra Spindler, Lena Charlott Hotopp, Vivien Angela Bach, Frauke Hornemann, Steffen Syrbe, An… , 9 July 2017. - 9 S.
In: European journal of pediatrics, ISSN 1432-1076. 176(2017), 8, Seite 1121-1129
DOI: 10.1007/s00431-017-2958-0
Syrbe, Steffen: Müller glial cells of the primate foveola : an electron microscopical study / Steffen Syrbe, Heidrun Kuhrt, Ulrich Gärtner, Gunnar Habermann, Peter Wiedemann, Andreas Bringmann, … , 2018. - 8 S.
In: Experimental eye research, ISSN 1096-0007. 167(2018), Seite 110-117
DOI: 10.1016/j.exer.2017.12.004
Syrbe, Steffen: Delineating SPTAN1 associated phenotypes : from isolated epilepsy to encephalopathy with progressive brain atrophy / Steffen Syrbe, Frederike L. Harms, Elena Parrini, Martino Montomoli, Ulrike Mütze, Katherine L. Helb… , 2017. - 15 S.
In: Brain, ISSN 1460-2156. 140(2017), 9, Seite 2322-2336
DOI: 10.1093/brain/awx195
Masnada, Silvia: Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies / Silvia Masnada, Ulrike B. S. Hedrich, Elena Gardella, Julian Schubert, Charu Kaiwar, Eric W. Klee, B… . - 18 S.
In: Brain, ISSN 1460-2156. 140(2017), 9, S. 2337-2354
DOI: 10.1093/brain/awx184
Møller, Rikke S.: Mutations in GABRB3 : from febrile seizures to epileptic encephalopathies / Rikke S. Møller, Thomas V. Wuttke, Ingo Helbig, Carla Marini, Katrine M. Johannesen, Eva H. Brilstra… . - 10 S.
In: Neurology, ISSN 1526-632X. 88(2017), 5, S. 483-492
DOI: 10.1212/WNL.0000000000003565
Syrbe, Steffen: Phenotypic variability from benign infantile epilepsy to Ohtahara syndrome associated with a novel mutation in SCN2A / Steffen Syrbe, Boris S. Zhorov, Astrid Bertsche, Matthias K. Bernhard, Frauke Hornemann, Ulrike Mütz… , July 19, 2016. - 7 S.
In: Molecular syndromology, ISSN 1661-8777. 7(2016), 4, Seite 182-188
DOI: 10.1159/000447526
Strehlow, Vincent: Generalized epilepsy and myoclonic seizures in 22q11.2 deletion syndrome / Vincent Strehlow, Marielle E.M. Swinkels, Rhys H. Thomas, Nora Rapps, Steffen Syrbe, Thomas Dorn, Jo… , August 24, 2016. - 8 S.
In: Molecular syndromology, ISSN 1661-8777. 7(2016), 4, Seite 239-246
DOI: 10.1159/000448445
Maljevic, Snezana: Novel KCNQ3 muation in a large family with benign familial neonatal epilepsy : a rare cause of neonatal seizures / Snezana Maljevic, Sabina Vejzovic, Matthias K. Bernhard, Astrid Bertsche, Sebastian Weise, Miriam Dö… , July 7, 2016. - 8 S.
In: Molecular syndromology, ISSN 1661-8777. 7(2016), 4, Seite 189-196
DOI: 10.1159/000447461
Pauschek, Josefine: Epilepsy in children and adolescents : disease concepts, practical knowledge, and coping / Josefine Pauschek, Matthias K. Bernhard, Steffen Syrbe, Petra Nickel, Martina P. Neininger, Andreas … , 23 April 2016. - 6 S.
In: Epilepsy & behavior, ISSN 1525-5069. 59(2016), Seite 77-82
DOI: 10.1016/j.yebeh.2016.03.033
Lemke, Johannes: Delineating the GRIN1 phenotypic spectrum / Johannes R. Lemke, Kirsten Geider, Katherine L. Helbig, Henrike O. Heyne, Hannah Schütz, Julia Hents… . - 8 S.
In: Neurology, ISSN 1526-632X. 86(2016), 23, S. 2171-2178
DOI: 10.1212/WNL.0000000000002740
Mütze, Ulrike: Multigene panel next generation sequencing in a patient with cherry red macular spot : Identification of two novel mutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings / Ulrike Mütze, Friederike Bürger, Jessica Hoffmann, Helmut Tegetmeyer, Jens Heichel, Petra Nickel, Jo… , 2017. - 4 S.
In: Molecular genetics and metabolism reports, ISSN 2214-4269. 10(2017), Seite 1-4
DOI: 10.1016/j.ymgmr.2016.11.004
Kaune, Almuth: Administration of anticonvulsive rescue medication in children : discrepancies between parents’ self-reports and limited practical performance / Almuth Kaune, Pia Madeleine Schumacher, Sabine Christine Hoppe, Steffen Syrbe, Matthias Karl Bernhar… . - 8 S.
In: European journal of pediatrics, ISSN 1432-1076. 175(2016), 9, S. 1139-1146
DOI: 10.1007/s00431-016-2750-6
Pauschek, Josefine: Epilepsy in children and adolescents : disease concepts, practical knowledge, and coping / Josefine Pauschek, Matthias K. Bernhard, Steffen Syrbe, Petra Nickel, Martina P. Neininger, Andreas … . - 6 S.
In: Epilepsy & behavior, ISSN 1525-5069. 59(2016), S. 77-82
DOI: 10.1016/j.yebeh.2016.03.033
Pauschek, Josefine: Response to black R and chin R's letter on our article “Epilepsy in children and adolescents: Disease concepts, practical knowledge, and coping” / J. Pauschek, M.K. Bernhard, S. Syrbe, P. Nickel, M.P. Neininger, A. Merkenschlager, W. Kiess, T. Ber… . - 1 S.
In: Epilepsy & behavior, ISSN 1525-5069. 62(2016), S. 312-312
DOI: 10.1016/j.yebeh.2016.06.033

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