Steffan Syrbe

Affiliations

Division of Pediatric Epileptology, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.

Publications (72)

Germline AGO2 mutations impair RNA interference and human neurological development.

Nature communications

Avec: Davor Lessel , Daniela M Zeitler , Margot R F Reijnders , Andriy Kazantsev , Fatemeh Hassani Nia , Alexander Bartholomäus , 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 Lüttgen , Ilaria Mannucci , Ivana Lessel , Claudia Schob , Stefan Kindler , John Pappas , Rachel Rabin , Marjolein Willemsen , Thatjana Gardeitchik , Katharina Löhner , 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-Jürgen Kreienkamp

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

American journal of human genetics

Avec: Anne H O'Donnell-Luria , Lynn S Pais , Víctor Faundes , Jordan C Wood , Abigail Sveden , Victor Luria , Rami Abou Jamra , Andrea Accogli , Kimberly Amburgey , Britt Marie Anderlid , Silvia Azzarello-Burri , Alice A Basinger , Claudia Bianchini , Lynne M Bird , Rebecca Buchert , Wilfrid Carre , Sophia Ceulemans , Perrine Charles , Helen Cox , Lisa Culliton , Aurora Currò , Auteur inconnu , Florence Demurger , James J Dowling , Benedicte Duban-Bedu , Christèle Dubourg , Saga Elise Eiset , Luis F Escobar , Alessandra Ferrarini , Tobias B Haack , Mona Hashim , Solveig Heide , Katherine L Helbig , Ingo Helbig , Raul Heredia , Delphine Héron , Bertrand Isidor , Amy R Jonasson , Pascal Joset , Boris Keren , Fernando Kok , Hester Y Kroes , Alinoë Lavillaureix , Xin Lu , Saskia M Maas , Gustavo H B Maegawa , Carlo L M Marcelis , Paul R Mark , Marcelo R Masruha , Heather M McLaughlin , Kirsty McWalter , Esther U Melchinger , Saadet Mercimek-Andrews , Caroline Nava , Manuela Pendziwiat , Richard Person , Gian Paolo Ramelli , Luiza L P Ramos , Anita Rauch , Caitlin Reavey , Alessandra Renieri , Angelika Rieß , Amarilis Sanchez-Valle , Shifteh Sattar , Carol Saunders , Niklas Schwarz , Thomas Smol , Myriam Srour , Katharina Steindl , Steffen Syrbe , Jenny C Taylor , Aida Telegrafi , Isabelle Thiffault , Doris A Trauner , Helio van der Linden , Silvana van Koningsbruggen , Laurent Villard , Ida Vogel , Julie Vogt , Yvonne G Weber , Ingrid M Wentzensen , Elysa Widjaja , Jaroslav Zak , Samantha Baxter , Siddharth Banka , Lance H Rodan

High throughput newborn screening for aromatic ʟ-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots.

Journal of inherited metabolic disease

Avec: Heiko Brennenstuhl , Dirk Kohlmüller , Gwendolyn Gramer , Sven F Garbade , Steffen Syrbe , Patrik Feyh , Stefan Kölker , Jürgen G Okun , Georg F Hoffmann , Thomas Opladen

Predicting functional effects of missense variants in voltage-gated sodium and calcium channels.

Science translational medicine

Avec: Henrike O Heyne , David Baez-Nieto , Sumaiya Iqbal , Duncan S Palmer , Andreas Brunklaus , Patrick May , Auteur inconnu , Katrine M Johannesen , Stephan Lauxmann , Johannes R Lemke , Rikke S Møller , Eduardo Pérez-Palma , Ute I Scholl , Steffen Syrbe , Holger Lerche , Dennis Lal , Arthur J Campbell , Hao-Ran Wang , Jen Pan , Mark J Daly

Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy.

Brain : a journal of neurology

Avec: Philip K Ahring , Vivian W Y Liao , Elena Gardella , Katrine M Johannesen , Ilona Krey , Kaja K Selmer , Barbro F Stadheim , Hannah Davis , Charlotte Peinhardt , Mahmoud Koko , Rohini K Coorg , Steffen Syrbe , Astrid Bertsche , Teresa Santiago-Sim , Tue Diemer , Christina D Fenger , Konrad Platzer , Evan E Eichler , Holger Lerche , Johannes R Lemke , Mary Chebib , Rikke S Møller

The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.

Brain : a journal of neurology

Avec: Andreas Brunklaus , Tobias Brünger , Tony Feng , Carmen Fons , Anni Lehikoinen , Eleni Panagiotakaki , Mihaela-Adela Vintan , Joseph Symonds , James Andrew , Alexis Arzimanoglou , Sarah Delima , Julie Gallois , Donncha Hanrahan , Gaetan Lesca , Stewart MacLeod , Dragan Marjanovic , Amy McTague , Noemi Nuñez-Enamorado , Eduardo Perez-Palma , M Scott Perry , Karen Pysden , Sophie J Russ-Hall , Ingrid E Scheffer , Krystal Sully , Steffen Syrbe , Ulvi Vaher , Murugan Velayutham , Julie Vogt , Shelly Weiss , Elaine Wirrell , Sameer M Zuberi , Dennis Lal , Rikke S Møller , Massimo Mantegazza , Sandrine Cestèle

Developmental and epileptic encephalopathies - therapeutic consequences of genetic testing.

Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V

Avec: Steffen Syrbe

Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier.

Nutrients

Avec: Bigna K Bölsterli , Eugen Boltshauser , Luigi Palmieri , Johannes Spenger , Michaela Brunner-Krainz , Felix Distelmaier , Peter Freisinger , Tobias Geis , Andrea L Gropman , Johannes Häberle , Julia Hentschel , Bruno Jeandidier , Daniela Karall , Boris Keren , Annick Klabunde-Cherwon , Vassiliki Konstantopoulou , Raimund Kottke , Francesco M Lasorsa , Christine Makowski , Cyril Mignot , Ruth O'Gorman Tuura , Vito Porcelli , René Santer , Kuntal Sen , Katja Steinbrücker , Steffen Syrbe , Matias Wagner , Andreas Ziegler , Thomas Zöggeler , Johannes A Mayr , Holger Prokisch , Saskia B Wortmann

Sleep quality, anxiety, symptoms of depression, and caregiver burden among those caring for patients with Dravet syndrome: a prospective multicenter study in Germany.

Orphanet journal of rare diseases

Avec: Margarita Maltseva , Susanne Schubert-Bast , Johann Philipp Zöllner , Thomas Bast , Thomas Mayer , Sarah von Spiczak , Susanne Ruf , Regina Trollmann , Markus Wolff , Frauke Hornemann , Kerstin A Klotz , Julia Jacobs , Gerhard Kurlemann , Bernd A Neubauer , Tilman Polster , Steffen Syrbe , Astrid Bertsche , Ulrich Bettendorf , Gerhard Kluger , Silke Flege , Felix Rosenow , Lara Kay , Adam Strzelczyk

Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in

Neurology

Avec: Kim M Thalwitzer , Jan H Driedger , Julie Xian , Afshin Saffari , Pia Zacher , Bigna K Bölsterli , Sarah McKeown Ruggiero , Katie Rose Sullivan , Alexandre N Datta , Christoph Kellinghaus , Jürgen Althaus , Adelheid Wiemer-Kruel , Andreas van Baalen , Armin Pampel , Michael Alber , Hilde M H Braakman , Otfried M Debus , Jonas Denecke , Elke Hobbiebrunken , Ina Breitweg , Danielle Diehl , Hans Eitel , Janina Gburek-Augustat , Martin Preisel , Jan-Ulrich Schlump , Mirjam Laufs , Dilbar Mammadova , Carsten Wurst , Christine Prager , Christa Löhr-Nilles , Peter Martin , Sven F Garbade , Konrad Platzer , Ira Benkel-Herrenbrueck , Kerstin Egler , Walid Fazeli , Johannes R Lemke , Eva Runkel , Barbara Klein , Tobias Linden , Julian Schröter , Heike Steffeck , Bastian Thies , Florian von Deimling , Sabine Illsinger , Ingo Borggraefe , Georg Classen , Dagmar Wieczorek , Georgia Ramantani , Stefan Koelker , Georg F Hoffmann , Markus Ries , Ingo Helbig , Steffen Syrbe

Mono and biallelic variants in

medRxiv : the preprint server for health sciences

Avec: Clara Houdayer , A Marie Phillips , Marie Chabbert , Jennifer Bourreau , Reza Maroofian , Henry Houlden , Kay Richards , Nebal Waill Saadi , Eliška Dad'ová , Patrick Van Bogaert , Mailys Rupin , Boris Keren , Perrine Charles , Thomas Smol , Audrey Riquet , Lynn Pais , Anne O'Donnell-Luria , Grace E VanNoy , Allan Bayat , Rikke S Møller , Kern Olofsson , Rami Abou Jamra , Steffen Syrbe , Majed Dasouki , Laurie H Seaver , Jennifer A Sullivan , Vandana Shashi , Fowzan S Alkuraya , Alexis F Poss , J Edward Spence , Rhonda E Schnur , Ian C Forster , Chaseley E Mckenzie , Cas Simons , Min Wang , Penny Snell , Kavitha Kothur , Michael Buckley , Tony Roscioli , Noha Elserafy , Benjamin Dauriat , Vincent Procaccio , Daniel Henrion , Guy Lenaers , Estelle Colin , Nienke E Verbeek , Koen L Van Gassen , Claire Legendre , Dominique Bonneau , Christopher A Reid , Katherine B Howell , Alban Ziegler , Christian Legros

Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.

Brain : a journal of neurology

Avec: Diana Le Duc , Cecilia Giulivi , Susan M Hiatt , Eleonora Napoli , Alexios Panoutsopoulos , Angelo Harlan De Crescenzo , Urania Kotzaeridou , Steffen Syrbe , Evdokia Anagnostou , Meron Azage , Renee Bend , Amber Begtrup , Natasha J Brown , Benjamin Büttner , Megan T Cho , Gregory M Cooper , Jan H Doering , Christèle Dubourg , David B Everman , Michael S Hildebrand , Francis Jeshira Reynoso Santos , Barbara Kellam , Jennifer Keller-Ramey , Johannes R Lemke , Shuxi Liu , Dmitriy Niyazov , Katelyn Payne , Richard Person , Chloé Quélin , Rhonda E Schnur , Brooke T Smith , Jonathan Strober , Susan Walker , Mathew Wallis , Laurence Walsh , Sandra Yang , Ryan K C Yuen , Andreas Ziegler , Heinrich Sticht , Michael C Pride , Lori Orosco , Verónica Martínez-Cerdeño , Jill L Silverman , Jacqueline N Crawley , Stephen W Scherer , Konstantinos S Zarbalis , Rami Jamra

CASPR2 autoimmunity in children expanding to mild encephalopathy with hypertension.

Neurology

Avec: Steffen Syrbe , Georg M Stettner , Julien Bally , Ingo Borggraefe , Corinna I Bien , Ruxandra Iancu Ferfoglia , Peter Huppke , Jan Kern , Tilman Polster , Elisabeth Probst-Müller , Silvia Schmid , Robert Steinfeld , Susi Strozzi , Annette Weichselbaum , Marcus Weitz , Andreas Ziegler , Klaus-Peter Wandinger , Frank Leypoldt , Christian G Bien

Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Julian Schröter , Jan H Döring , Sven F Garbade , Georg F Hoffmann , Stefan Kölker , Markus Ries , Steffen Syrbe

Clinical spectrum and treatment outcome of 95 children with continuous spikes and waves during sleep (CSWS).

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Avec: Benedikt Sonnek , Jan Henje Döring , Ulrike Mütze , Susanne Schubert-Bast , Thomas Bast , Doreen Balke , Gitta Reuner , Elisabeth Schuler , Annick Klabunde-Cherwon , Georg F Hoffmann , Stefan Kölker , Steffen Syrbe

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Anaïs Begemann , Heinrich Sticht , Amber Begtrup , Antonio Vitobello , Laurence Faivre , Siddharth Banka , Bader Alhaddad , Reza Asadollahi , Jessica Becker , Tatjana Bierhals , Kathleen E Brown , Ange-Line Bruel , Theresa Brunet , Maryline Carneiro , Kirsten Cremer , Robert Day , Anne-Sophie Denommé-Pichon , Dave A Dyment , Hartmut Engels , Rachel Fisher , Elaine S Goh , M J Hajianpour , Lucia Ribeiro Machado Haertel , Nadine Hauer , Maja Hempel , Theresia Herget , Jessika Johannsen , Cornelia Kraus , Gwenaël Le Guyader , Gaetan Lesca , Frédéric Tran Mau-Them , John Henry McDermott , Kirsty McWalter , Pierre Meyer , Katrin Õunap , Bernt Popp , Tiia Reimand , Korbinian M Riedhammer , Martina Russo , Lynette G Sadleir , Margarita Saenz , Manuel Schiff , Elisabeth Schuler , Steffen Syrbe , Amelie Theresa Van der Ven , Alain Verloes , Marjolaine Willems , Christiane Zweier , Katharina Steindl , Markus Zweier , Anita Rauch

KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.

Brain : a journal of neurology

Avec: Claudia M Bonardi , Henrike O Heyne , Martina Fiannacca , Mark P Fitzgerald , Elena Gardella , Boudewijn Gunning , Kern Olofsson , Gaétan Lesca , Nienke Verbeek , Hannah Stamberger , Pasquale Striano , Federico Zara , Maria M Mancardi , Caroline Nava , Steffen Syrbe , Salvatore Buono , Stephanie Baulac , Antonietta Coppola , Sarah Weckhuysen , An-Sofie Schoonjans , Berten Ceulemans , Catherine Sarret , Tobias Baumgartner , Hiltrud Muhle , Vincent des Portes , Joseph Toulouse , Marie-Christine Nougues , Massimiliano Rossi , Geneviève Demarquay , Dorothée Ville , Edouard Hirsch , Hélène Maurey , Marjolaine Willems , Julitta de Bellescize , Cecilia Desmettre Altuzarra , Nathalie Villeneuve , Fabrice Bartolomei , Fabienne Picard , Frauke Hornemann , David A Koolen , Hester Y Kroes , Chiara Reale , Christina D Fenger , Wen-Hann Tan , Leanne Dibbens , David R Bearden , Rikke S Møller , Guido Rubboli

Epilepsy surgery: Late seizure recurrence after initial complete seizure freedom.

Epilepsia

Avec: Stephan Petrik , Victoria San Antonio-Arce , Bernhard J Steinhoff , Steffen Syrbe , Thomas Bast , Christian Scheiwe , Armin Brandt , Juergen Beck , Andreas Schulze-Bonhage

L-Serine Treatment is Associated with Improvements in Behavior, EEG, and Seizure Frequency in Individuals with GRIN-Related Disorders Due to Null Variants.

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics

Avec: Ilona Krey , Sarah von Spiczak , Kathrine M Johannesen , Christiane Hikel , Gerhard Kurlemann , Hiltrud Muhle , Diane Beysen , Tobias Dietel , Rikke S Møller , Johannes R Lemke , Steffen Syrbe

Genetic testing before epilepsy surgery - An exploratory survey and case collection from German epilepsy centers.

Seizure

Avec: Christian Malte Boßelmann , Victoria San Antonio-Arce , Andreas Schulze-Bonhage , Susanne Fauser , Pia Zacher , Thomas Mayer , Javier Aparicio , Kristina Albers , Thomas Cloppenborg , Wolfram Kunz , Rainer Surges , Steffen Syrbe , Yvonne Weber , Stefan Wolking

De novo variants in the PABP domain of PABPC1 lead to developmental delay.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Meret Wegler , Xiangbin Jia , Marielle Alders , Arjan Bouman , Jia Chen , Xinyu Duan , Julie L Lauzon , Inge B Mathijssen , Heinrich Sticht , Steffen Syrbe , Senwei Tan , Hui Guo , Rami Abou Jamra

L-Serine Treatment is Associated with Improvements in Behavior, EEG, and Seizure Frequency in Individuals with GRIN-Related Disorders Due to Null Variants.

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics

Avec: Ilona Krey , Sarah von Spiczak , Kathrine M Johannesen , Christiane Hikel , Gerhard Kurlemann , Hiltrud Muhle , Diane Beysen , Tobias Dietel , Rikke S Møller , Johannes R Lemke , Steffen Syrbe

Early life seizures and epileptic spasms in STXBP1-related disorders.

Epilepsia

Avec: Kim M Thalwitzer , Julie Xian , Danielle de Campo , Shridhar Parthasarathy , Jan Magielski , Katie R Sullivan , James Goss , Charlene Son Rigby , Michael Boland , Ben Prosser , Sarah M Ruggiero , Steffen Syrbe , Ingo Helbig

Stereotactically Injected Kv1.2 and CASPR2 Antisera Cause Differential Effects on CA1 Synaptic and Cellular Excitability, but Both Enhance the Vulnerability to Pro-epileptic Conditions.

Frontiers in synaptic neuroscience

Avec: Timo Kirschstein , Erika Sadkiewicz , Gerda Hund-Göschel , Juliane Becker , Xiati Guli , Steffen Müller , Marco Rohde , Dora-Charlotte Hübner , Hannes Brehme , Stephan Kolbaske , Katrin Porath , Tina Sellmann , Annette Großmann , Matthias Wittstock , Steffen Syrbe , Alexander Storch , Rüdiger Köhling

Axenfeld-Rieger Anomaly and Neuropsychiatric Problems-More than Meets the Eye.

Neuropediatrics

Avec: Afshin Saffari , Andreas Ziegler , Andreas Merkenschlager , Stefan Krüger , Stefan Kölker , Georg Friedrich Hoffmann , Steffen Syrbe

Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy.

Brain : a journal of neurology

Avec: Wenshu XiangWei , Varun Kannan , Yuchen Xu , Gabrielle J Kosobucki , Anthony J Schulien , Hirofumi Kusumoto , Christelle Moufawad El Achkar , Subhrajit Bhattacharya , Gaetan Lesca , Sylvie Nguyen , Katherine L Helbig , Jean-Marie Cuisset , Christina Dühring Fenger , Dragan Marjanovic , Elisabeth Schuler , Ye Wu , Xinhua Bao , Yuehua Zhang , Nina Dirkx , An-Sofie Schoonjans , Steffen Syrbe , Scott J Myers , Annapurna Poduri , Elias Aizenman , Stephen F Traynelis , Johannes R Lemke , Hongjie Yuan , Yuwu Jiang

ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.

Brain : a journal of neurology

Avec: Annalisa Vetro , Hang N Nielsen , Rikke Holm , Robert F Hevner , Elena Parrini , Zoe Powis , Rikke S Møller , Cristina Bellan , Alessandro Simonati , Gaétan Lesca , Katherine L Helbig , Elizabeth E Palmer , Davide Mei , Elisa Ballardini , Arie Van Haeringen , Steffen Syrbe , Vincenzo Leuzzi , Giovanni Cioni , Cynthia J Curry , Gregory Costain , Margherita Santucci , Karen Chong , Grazia M S Mancini , Jill Clayton-Smith , Stefania Bigoni , Ingrid E Scheffer , William B Dobyns , Bente Vilsen , Renzo Guerrini , Auteur inconnu

Health Outcomes of Infants with Vitamin B

The Journal of pediatrics

Avec: Ulrike Mütze , Magdalena Walter , Mareike Keller , Gwendolyn Gramer , Sven F Garbade , Florian Gleich , Dorothea Haas , Roland Posset , Sarah C Grünert , Julia B Hennermann , Eva Thimm , Junmin Fang-Hoffmann , Steffen Syrbe , Jürgen G Okun , Georg F Hoffmann , Stefan Kölker

Refining Genotypes and Phenotypes in

International journal of molecular sciences

Avec: Jan H Döring , Julian Schröter , Jerome Jüngling , Saskia Biskup , Kerstin A Klotz , Thomas Bast , Tobias Dietel , G Christoph Korenke , Sophie Christoph , Heiko Brennenstuhl , Guido Rubboli , Rikke S Møller , Gaetan Lesca , Yves Chaix , Stefan Kölker , Georg F Hoffmann , Johannes R Lemke , Steffen Syrbe

Efficacy, Tolerability, and Retention of Antiseizure Medications in

Neurology. Genetics

Avec: Jan H Döring , Afshin Saffari , Thomas Bast , Knut Brockmann , Laura Ehrhardt , Walid Fazeli , Wibke G Janzarik , Annick Klabunde-Cherwon , Gerhard Kluger , Hiltrud Muhle , Manuela Pendziwiat , Rikke S Møller , Konrad Platzer , Joana Larupa Santos , Julian Schröter , Georg F Hoffmann , Stefan Kölker , Steffen Syrbe

Critical incidents, nocturnal supervision, and caregiver knowledge on SUDEP in patients with Dravet syndrome: A prospective multicenter study in Germany.

Epilepsia

Avec: Margarita Maltseva , Felix Rosenow , Susanne Schubert-Bast , Silke Flege , Markus Wolff , Sarah von Spiczak , Regina Trollmann , Steffen Syrbe , Susanne Ruf , Tilman Polster , Bernd A Neubauer , Thomas Mayer , Julia Jacobs , Gerhard Kurlemann , Gerhard Kluger , Kerstin A Klotz , Matthias Kieslich , Lara Kay , Frauke Hornemann , Ulrich Bettendorf , Astrid Bertsche , Thomas Bast , Adam Strzelczyk

De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Marine Tessarech , Gaëlle Friocourt , Florent Marguet , Maryline Lecointre , Morgane Le Mao , Rodrigo Muñoz Díaz , Cyril Mignot , Boris Keren , Bénédicte Héron , Charlotte De Bie , Koen Van Gassen , Didier Loisel , Benoit Delorme , Steffen Syrbe , Annick Klabunde-Cherwon , Rami Abou Jamra , Meret Wegler , Bert Callewaert , Annelies Dheedene , Merzouka Zidane-Marinnes , Agnès Guichet , Céline Bris , Patrick Van Bogaert , Florence Biquard , Guy Lenaers , Pascale Marcorelles , Claude Ferec , Bruno Gonzalez , Vincent Procaccio , Antonio Vitobello , Dominique Bonneau , Annie Laquerriere , Salim Khiati , Estelle Colin

Fat embolism syndrome in Duchenne muscular dystrophy: Report on a novel case and systematic literature review.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Avec: Sabine Specht , Irina Zhukova , Jens H Westhoff , Larissa Erb , Andreas Ziegler , Stefan Kölker , Georg F Hoffmann , Sébastien Hagmann , Steffen Syrbe

De Novo Variants in KCNA3 Cause Developmental and Epileptic Encephalopathy.

Annals of neurology

Avec: Maria Virginia Soldovieri , Paolo Ambrosino , Ilaria Mosca , Ilenio Servettini , Francesca Pietrunti , Giorgio Belperio , Auteur inconnu , Steffen Syrbe , Maurizio Taglialatela , Johannes R Lemke

Genome Sequencing for Diagnosing Rare Diseases.

The New England journal of medicine

Avec: Monica H Wojcik , Gabrielle Lemire , Eva Berger , Maha S Zaki , Mariel Wissmann , Wathone Win , Susan M White , Ben Weisburd , Dagmar Wieczorek , Leigh B Waddell , Jeffrey M Verboon , Grace E VanNoy , Ana Töpf , Tiong Yang Tan , Steffen Syrbe , Vincent Strehlow , Volker Straub , Sarah L Stenton , Hana Snow , Moriel Singer-Berk , Josh Silver , Shirlee Shril , Eleanor G Seaby , Ronen Schneider , Vijay G Sankaran , Alba Sanchis-Juan , Kathryn A Russell , Karit Reinson , Gianina Ravenscroft , Maximilian Radtke , Denny Popp , Tilman Polster , Konrad Platzer , Eric A Pierce , Emily M Place , Sander Pajusalu , Lynn Pais , Katrin Õunap , Ikeoluwa Osei-Owusu , Henry Opperman , Volkan Okur , Kaisa Teele Oja , Melanie O'Leary , Emily O'Heir , Chantal F Morel , Andreas Merkenschlager , Rhett G Marchant , Brian E Mangilog , Jill A Madden , Daniel MacArthur , Alysia Lovgren , Jordan P Lerner-Ellis , Jasmine Lin , Nigel Laing , Friedhelm Hildebrandt , Julia Hentschel , Emily Groopman , Julia Goodrich , Joseph G Gleeson , Roula Ghaoui , Casie A Genetti , Janina Gburek-Augustat , Hanna T Gazda , Vijay S Ganesh , Mythily Ganapathi , Lyndon Gallacher , Jack M Fu , Emily Evangelista , Eleina England , Sandra Donkervoort , Stephanie DiTroia , Sandra T Cooper , Wendy K Chung , John Christodoulou , Katherine R Chao , Liam D Cato , Kinga M Bujakowska , Samantha J Bryen , Harrison Brand , Carsten G Bönnemann , Alan H Beggs , Samantha M Baxter , Tobias Bartolomaeus , Pankaj B Agrawal , Michael Talkowski , Christina Austin-Tse , Rami Abou Jamra , Heidi L Rehm , Anne O'Donnell-Luria

Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.

Epilepsia

Avec: Claudia Cuccurullo , Emanuele Cerulli Irelli , Lorenzo Ugga , Antonella Riva , Alessandra D'Amico , Sara Cabet , Gaetan Lesca , Leonilda Bilo , Federico Zara , Catrinel Iliescu , Diana Barca , France Fung , Katherine Helbig , Xilma Ortiz-Gonzalez , Helenius J Schelhaas , Marjolein H Willemsen , Inge van der Linden , Laura Canafoglia , Carolina Courage , Samuele Gommaraschi , Pedro Gonzalez-Alegre , Tanya Bardakjian , Steffen Syrbe , Elisabeth Schuler , Johannes R Lemke , Stella Vari , Gitte Roende , Mads Bak , Mahbulul Huq , Zoe Powis , Katrine M Johannesen , Trine Bjørg Hammer , Rikke S Møller , Rachel Rabin , John Pappas , Mary L Zupanc , Neda Zadeh , Julie Cohen , Sakkubai Naidu , Ilona Krey , Russell Saneto , Jenny Thies , Laura Licchetta , Paolo Tinuper , Francesca Bisulli , Raffaella Minardi , Allan Bayat , Nathalie Villeneuve , Florence Molinari , Hormos Salimi Dafsari , Birk Moller , Marie Le Roux , Clara Houdayer , Marilena Vecchi , Isabella Mammi , Elena Fiorini , Jacopo Proietti , Sofia Ferri , Gaetano Cantalupo , Domenica Immacolata Battaglia , Maria Luigia Gambardella , Ilaria Contaldo , Claudia Brogna , Marina Trivisano , Angela De Dominicis , Stefania Maria Bova , Elena Gardella , Pasquale Striano , Antonietta Coppola

Vitamin B12 Deficiency Newborn Screening.

Pediatrics

Avec: Ulrike Mütze , Florian Gleich , Dorothea Haas , Michael S Urschitz , Wulf Röschinger , Nils Janzen , Georg F Hoffmann , Sven F Garbade , Steffen Syrbe , Stefan Kölker

Genotype-phenotype correlation on 45 individuals with West syndrome.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Avec: Ilona Krey , Janna Krois-Neudenberger , Julia Hentschel , Steffen Syrbe , Tilman Polster , Britta Hanker , Barbara Fiedler , Gerhardt Kurlemann , Johannes R Lemke

Expectations and knowledge of cannabidiol therapy for childhood epilepsy - A German caregiver survey.

Epilepsy & behavior : E&B

Avec: Kerstin Alexandra Klotz , Jan Schönberger , Lea Nakamura , Victoria San Antonio-Arce , Thomas Bast , Adelheid Wiemer-Kruel , Susanne Schubert-Bast , Ingo Borggraefe , Steffen Syrbe , Julia Jacobs

Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective study.

Orphanet journal of rare diseases

Avec: Afshin Saffari , Ines Brösse , Adelheid Wiemer-Kruel , Bernd Wilken , Paula Kreuzaler , Andreas Hahn , Matthias K Bernhard , Cornelis M van Tilburg , Georg F Hoffmann , Matthias Gorenflo , Sven Hethey , Olaf Kaiser , Stefan Kölker , Robert Wagner , Olaf Witt , Andreas Merkenschlager , Andreas Möckel , Timo Roser , Jan-Ulrich Schlump , Antje Serfling , Juliane Spiegler , Till Milde , Andreas Ziegler , Steffen Syrbe

Treatment Responsiveness in KCNT1-Related Epilepsy.

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics

Avec: Mark P Fitzgerald , Martina Fiannacca , Douglas M Smith , Tracy S Gertler , Boudewijn Gunning , Steffen Syrbe , Nienke Verbeek , Hannah Stamberger , Sarah Weckhuysen , Berten Ceulemans , An-Sofie Schoonjans , Massimiliano Rossi , Geneviève Demarquay , Gaetan Lesca , Kern Olofsson , D A Koolen , Frauke Hornemann , Stephanie Baulac , Guido Rubboli , Kelly Q Minks , Bohoon Lee , Ingo Helbig , Dennis Dlugos , Rikke S Møller , David Bearden

Health-related quality of life in children and adolescents with tuberous sclerosis complex and their caregivers: A multicentre cohort study from Germany.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Avec: Laurent M Willems , Susanne Schubert-Bast , Janina Grau , Christoph Hertzberg , Gerhard Kurlemann , Adelheid Wiemer-Kruel , Thomas Bast , Astrid Bertsche , Ulrich Bettendorf , Barbara Fiedler , Andreas Hahn , Hans Hartmann , Frauke Hornemann , Ilka Immisch , Julia Jacobs , Matthias Kieslich , Karl Martin Klein , Kerstin A Klotz , Gerhard Kluger , Markus Knuf , Thomas Mayer , Klaus Marquard , Sascha Meyer , Hiltrud Muhle , Karen Müller-Schlüter , Anna H Noda , Susanne Ruf , Matthias Sauter , Jan-Ulrich Schlump , Steffen Syrbe , Charlotte Thiels , Regina Trollmann , Bernd Wilken , Johann Philipp Zöllner , Felix Rosenow , Adam Strzelczyk

The Angelman Syndrome Online Registry - A multilingual approach to support global research.

European journal of medical genetics

Avec: Ilona Krey , Constanze Heine , Marcel Frömming , Julia Herrmann , Rikke S Møller , Sarah Weckhuysen , Carolina Courage , Skadi Beblo , Steffen Syrbe , Johannes R Lemke

Prescription patterns of antiseizure drugs in tuberous sclerosis complex (TSC)-associated epilepsy: a multicenter cohort study from Germany and review of the literature.

Expert review of clinical pharmacology

Avec: Adam Strzelczyk , Janina Grau , Thomas Bast , Astrid Bertsche , Ulrich Bettendorf , Andreas Hahn , Hans Hartmann , Christoph Hertzberg , Frauke Hornemann , Ilka Immisch , Julia Jacobs , Kerstin A Klotz , Gerhard Kluger , Susanne Knake , Markus Knuf , Gerhard Kurlemann , Klaus Marquard , Thomas Mayer , Sascha Meyer , Hiltrud Muhle , Karen Müller-Schlüter , Felix von Podewils , Felix Rosenow , Susanne Ruf , Matthias Sauter , Hannah Schäfer , Jan-Ulrich Schlump , Susanne Schubert-Bast , Steffen Syrbe , Charlotte Thiels , Regina Trollmann , Adelheid Wiemer-Kruel , Bernd Wilken , Bianca Zukunft , Johann Philipp Zöllner

Deep-Phenotyping the Less Severe Spectrum of

Frontiers in genetics

Avec: Allan Bayat , Manuela Pendziwiat , Ewa Obersztyn , Paula Goldenberg , Pia Zacher , Jan Henje Döring , Steffen Syrbe , Amber Begtrup , Artem Borovikov , Artem Sharkov , Aneta Karasińska , Maria Giżewska , Wendy Mitchell , Eva Morava , Rikke S Møller , Guido Rubboli

Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Gabriel C Dworschak , Jaya Punetha , Jeshurun C Kalanithy , Enrico Mingardo , Haktan B Erdem , Zeynep C Akdemir , Ender Karaca , Tadahiro Mitani , Dana Marafi , Jawid M Fatih , Shalini N Jhangiani , Jill V Hunter , Tikam Chand Dakal , Bhanupriya Dhabhai , Omar Dabbagh , Hessa S Alsaif , Fowzan S Alkuraya , Reza Maroofian , Henry Houlden , Stephanie Efthymiou , Natalia Dominik , Vincenzo Salpietro , Tipu Sultan , Shahzad Haider , Farah Bibi , Holger Thiele , Julia Hoefele , Korbinian M Riedhammer , Matias Wagner , Ilaria Guella , Michelle Demos , Boris Keren , Julien Buratti , Perrine Charles , Caroline Nava , Delphine Héron , Solveig Heide , Elise Valkanas , Leigh B Waddell , Kristi J Jones , Emily C Oates , Sandra T Cooper , Daniel MacArthur , Steffen Syrbe , Andreas Ziegler , Konrad Platzer , Volkan Okur , Wendy K Chung , Sarah A O'Shea , Roy Alcalay , Stanley Fahn , Paul R Mark , Renzo Guerrini , Annalisa Vetro , Beth Hudson , Rhonda E Schnur , George E Hoganson , Jennifer E Burton , Meriel McEntagart , Tobias Lindenberg , Öznur Yilmaz , Benjamin Odermatt , Davut Pehlivan , Jennifer E Posey , James R Lupski , Heiko Reutter

Delineating clinical and developmental outcomes in STXBP1-related disorders.

Brain : a journal of neurology

Avec: Julie Xian , Kim Marie Thalwitzer , Jillian McKee , Katie Rose Sullivan , Elise Brimble , Eryn Fitch , Jonathan Toib , Michael C Kaufman , Danielle deCampo , Kristin Cunningham , Samuel R Pierce , James Goss , Charlene Son Rigby , Steffen Syrbe , Michael Boland , Benjamin Prosser , Nasha Fitter , Sarah M Ruggiero , Ingo Helbig

aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment.

Computational and structural biotechnology journal

Avec: Julian Schröter , Tal Dattner , Jennifer Hüllein , Alejandra Jayme , Vincent Heuveline , Georg F Hoffmann , Stefan Kölker , Dominic Lenz , Thomas Opladen , Bernt Popp , Christian P Schaaf , Christian Staufner , Steffen Syrbe , Sebastian Uhrig , Daniel Hübschmann , Heiko Brennenstuhl

Real-world data on cannabidiol treatment of various epilepsy subtypes: A retrospective, multicenter study.

Epilepsia open

Avec: Fabienne Kühne , Lena-Luise Becker , Thomas Bast , Astrid Bertsche , Ingo Borggraefe , Christian Malte Boßelmann , Jörg Fahrbach , Christoph Hertzberg , Nina A Herz , Martin Hirsch , Martin Holtkamp , Christine Janello , Gerhard Josef Kluger , Gerhard Kurlemann , Holger Lerche , Konstantin L Makridis , Felix von Podewils , Milka Pringsheim , Susanne Schubert-Bast , Juliane Schulz , Andreas Schulze-Bonhage , David Steinbart , Bernhard J Steinhoff , Adam Strzelczyk , Steffen Syrbe , Heike De Vries , Christiane Wagner , Johanna Wagner , Bernd Wilken , Christine Prager , Kerstin A Klotz , Angela M Kaindl

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly.

Human genetics

Avec: Franziska Schnabel , Elisabeth Schuler , Almundher Al-Maawali , Ankur Chaurasia , Steffen Syrbe , Adila Al-Kindi , Gandham SriLakshmi Bhavani , Anju Shukla , Janine Altmüller , Peter Nürnberg , Siddharth Banka , Katta M Girisha , Yun Li , Bernd Wollnik , Gökhan Yigit

Early life seizures and epileptic spasms in

medRxiv : the preprint server for health sciences

Avec: Kim M Thalwitzer , Julie Xian , Danielle deCampo , Shridhar Parthasarathy , Jan Magielski , Katie Rose Sullivan , James Goss , Charlene Son Rigby , Michael Boland , Ben Prosser , Sarah M Ruggiero , Steffen Syrbe , Ingo Helbig

A large and diverse brain organoid dataset of 1,400 cross-laboratory images of 64 trackable brain organoids.

Scientific data

Avec: Julian Schröter , Luca Deininger , Blaz Lupse , Petra Richter , Steffen Syrbe , Ralf Mikut , Sabine Jung-Klawitter

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.

American journal of human genetics

Avec: Tassja Kalm , Claudia Schob , Hanna Völler , Thatjana Gardeitchik , Christian Gilissen , Rolph Pfundt , Chiara Klöckner , Konrad Platzer , Annick Klabunde-Cherwon , Markus Ries , Steffen Syrbe , Francesca Beccaria , Francesca Madia , Marcello Scala , Federico Zara , Floris Hofstede , Marleen E H Simon , Richard H van Jaarsveld , Renske Oegema , Koen L I van Gassen , Sjoerd J B Holwerda , Tahsin Stefan Barakat , Arjan Bouman , Marjon van Slegtenhorst , Sara Álvarez , Alberto Fernández-Jaén , Javier Porta , Andrea Accogli , Margherita Maria Mancardi , Pasquale Striano , Michele Iacomino , Jong-Hee Chae , SeSong Jang , Soo Y Kim , David Chitayat , Saadet Mercimek-Andrews , Christel Depienne , Antje Kampmeier , Alma Kuechler , Harald Surowy , Enrico Silvio Bertini , Francesca Clementina Radio , Cecilia Mancini , Simone Pizzi , Marco Tartaglia , Lucas Gauthier , David Genevieve , Mylène Tharreau , Noy Azoulay , Gal Zaks-Hoffer , Nesia K Gilad , Naama Orenstein , Geneviève Bernard , Isabelle Thiffault , Jonas Denecke , Theresia Herget , Fanny Kortüm , Christian Kubisch , Robert Bähring , Stefan Kindler

Parental mosaicism in epilepsies due to alleged de novo variants.

Epilepsia

Avec: Rikke S Møller , Nora Liebmann , Line H G Larsen , Mathias Stiller , Julia Hentschel , Nahrain Kako , Dalia Abdin , Nataliya Di Donato , Deb K Pal , Pia Zacher , Steffen Syrbe , Hans A Dahl , Johannes R Lemke

Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies.

European journal of human genetics : EJHG

Avec: Julian Schröter , Bernt Popp , Heiko Brennenstuhl , Jan H Döring , Stephany H Donze , Emilia K Bijlsma , Arie van Haeringen , Dagmar Huhle , Leonie Jestaedt , Andreas Merkenschlager , Maria Arelin , Daniel Gräfe , Sonja Neuser , Stephanie Oates , Deb K Pal , Michael J Parker , Johannes R Lemke , Georg F Hoffmann , Stefan Kölker , Inga Harting , Steffen Syrbe

Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain.

European journal of human genetics : EJHG

Avec: Sonja Neuser , Ilona Krey , Annemarie Schwan , Rami Abou Jamra , Tobias Bartolomaeus , Jan Döring , Steffen Syrbe , Margit Plassmann , Stefan Rohde , Christian Roth , Helga Rehder , Maximilian Radtke , Diana Le Duc , Susanna Schubert , Luis Bermúdez-Guzmán , Alejandro Leal , Katharina Schoner , Bernt Popp

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Holly K Harris , Tojo Nakayama , Jenny Lai , Boxun Zhao , Nikoleta Argyrou , Cynthia S Gubbels , Aubrie Soucy , Casie A Genetti , Victoria Suslovitch , Lance H Rodan , George E Tiller , Gaetan Lesca , Karen W Gripp , Reza Asadollahi , Ada Hamosh , Carolyn D Applegate , Peter D Turnpenny , Marleen E H Simon , Catharina M L Volker-Touw , Koen L I van Gassen , Ellen van Binsbergen , Rolph Pfundt , Thatjana Gardeitchik , Bert B A de Vries , LaDonna L Immken , Catherine Buchanan , Marcia Willing , Tomi L Toler , Emily Fassi , Laura Baker , Fleur Vansenne , Xiadong Wang , Julian L Ambrus , Madeleine Fannemel , Jennifer E Posey , Emanuele Agolini , Antonio Novelli , Anita Rauch , Paranchai Boonsawat , Christina R Fagerberg , Martin J Larsen , Maria Kibaek , Audrey Labalme , Alice Poisson , Katelyn K Payne , Laurence E Walsh , Kimberly A Aldinger , Jorune Balciuniene , Cara Skraban , Christopher Gray , Jill Murrell , Caleb P Bupp , Giulia Pascolini , Paola Grammatico , Martin Broly , Sébastien Küry , Mathilde Nizon , Iqra Ghulam Rasool , Muhammad Yasir Zahoor , Cornelia Kraus , André Reis , Muhammad Iqbal , Kevin Uguen , Severine Audebert-Bellanger , Claude Ferec , Sylvia Redon , Janice Baker , Yunhong Wu , Guiseppe Zampino , Steffan Syrbe , Ines Brosse , Rami Abou Jamra , William B Dobyns , Lilian L Cohen , Anne Blomhoff , Cyril Mignot , Boris Keren , Thomas Courtin , Pankaj B Agrawal , Alan H Beggs , Timothy W Yu

Voltage Gated Sodium Channel Genes in Epilepsy: Mutations, Functional Studies, and Treatment Dimensions.

Frontiers in neurology

Avec: Ibitayo Abigail Ademuwagun , Solomon Oladapo Rotimi , Steffen Syrbe , Yvonne Ukamaka Ajamma , Ezekiel Adebiyi

The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood.

Biomedicines

Avec: Jan Henje Döring , Afshin Saffari , Thomas Bast , Knut Brockmann , Laura Ehrhardt , Walid Fazeli , Wibke G Janzarik , Gerhard Kluger , Hiltrud Muhle , Rikke S Møller , Konrad Platzer , Joana Larupa Santos , Iben Bache , Astrid Bertsche , Michaela Bonfert , Ingo Borggräfe , Philip J Broser , Alexandre N Datta , Trine Bjørg Hammer , Hans Hartmann , Anette Hasse-Wittmer , Marco Henneke , Hermann Kühne , Johannes R Lemke , Oliver Maier , Eva Matzker , Andreas Merkenschlager , Joachim Opp , Steffi Patzer , Kevin Rostasy , Birgit Stark , Adam Strzelczyk , Celina von Stülpnagel , Yvonne Weber , Markus Wolff , Birgit Zirn , Georg Friedrich Hoffmann , Stefan Kölker , Steffen Syrbe

Cerebrospinal fluid findings in patients with myelin oligodendrocyte glycoprotein (MOG) antibodies. Part 2: Results from 108 lumbar punctures in 80 pediatric patients.

Journal of neuroinflammation

Avec: Sven Jarius , Christian Lechner , Eva M Wendel , Matthias Baumann , Markus Breu , Mareike Schimmel , Michael Karenfort , Adela Della Marina , Andreas Merkenschlager , Charlotte Thiels , Astrid Blaschek , Michela Salandin , Steffen Leiz , Frank Leypoldt , Alexander Pschibul , Annette Hackenberg , Andreas Hahn , Steffen Syrbe , Jurgis Strautmanis , Martin Häusler , Peter Krieg , Astrid Eisenkölbl , Johannes Stoffels , Matthias Eckenweiler , Ilya Ayzenberg , Jürgen Haas , Romana Höftberger , Ingo Kleiter , Mirjam Korporal-Kuhnke , Marius Ringelstein , Klemens Ruprecht , Nadja Siebert , Kathrin Schanda , Orhan Aktas , Friedemann Paul , Markus Reindl , Brigitte Wildemann , Kevin Rostásy , Auteur inconnu

Generation of an induced pluripotent stem cell line (DHMCi008-A) from an individual with TUBA1A tubulinopathy.

Stem cell research

Avec: Julian Schröter , Hanna Syring , Gudrun Göhring , Stefan Kölker , Thomas Opladen , Georg F Hoffmann , Steffen Syrbe , Sabine Jung-Klawitter

Direct and indirect costs and cost-driving factors of Tuberous sclerosis complex in children, adolescents, and caregivers: a multicenter cohort study.

Orphanet journal of rare diseases

Avec: Janina Grau , Johann Philipp Zöllner , Susanne Schubert-Bast , Gerhard Kurlemann , Christoph Hertzberg , Adelheid Wiemer-Kruel , Thomas Bast , Astrid Bertsche , Ulrich Bettendorf , Barbara Fiedler , Andreas Hahn , Hans Hartmann , Frauke Hornemann , Ilka Immisch , Julia Jacobs , Matthias Kieslich , Karl Martin Klein , Kerstin A Klotz , Gerhard Kluger , Markus Knuf , Thomas Mayer , Klaus Marquard , Sascha Meyer , Hiltrud Muhle , Karen Müller-Schlüter , Anna H Noda , Susanne Ruf , Matthias Sauter , Jan-Ulrich Schlump , Steffen Syrbe , Charlotte Thiels , Regina Trollmann , Bernd Wilken , Laurent M Willems , Felix Rosenow , Adam Strzelczyk

Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder.

Human mutation

Avec: Francesca Semino , Julian Schröter , Marjolein H Willemsen , Thomas Bast , Saskia Biskup , Stefanie Beck-Woedl , Heiko Brennenstuhl , Christian P Schaaf , Stefan Kölker , Georg F Hoffmann , Tobias B Haack , Steffen Syrbe

Efficacy, Retention and Tolerability of Everolimus in Patients with Tuberous Sclerosis Complex: A Survey-Based Study on Patients' Perspectives.

CNS drugs

Avec: Laurent M Willems , Felix Rosenow , Susanne Schubert-Bast , Gerhard Kurlemann , Johann Philipp Zöllner , Thomas Bast , Astrid Bertsche , Ulrich Bettendorf , Daniel Ebrahimi-Fakhari , Janina Grau , Andreas Hahn , Hans Hartmann , Christoph Hertzberg , Frauke Hornemann , Ilka Immisch , Julia Jacobs , Karl Martin Klein , Kerstin A Klotz , Gerhard Kluger , Susanne Knake , Markus Knuf , Klaus Marquard , Thomas Mayer , Sascha Meyer , Hiltrud Muhle , Karen Müller-Schlüter , Felix von Podewils , Susanne Ruf , Matthias Sauter , Hannah Schäfer , Jan-Ulrich Schlump , Steffen Syrbe , Charlotte Thiels , Regina Trollmann , Adelheid Wiemer-Kruel , Bernd Wilken , Bianca Zukunft , Adam Strzelczyk

Assessing the landscape of STXBP1-related disorders in 534 individuals.

Brain : a journal of neurology

Avec: Julie Xian , Shridhar Parthasarathy , Sarah M Ruggiero , Ganna Balagura , Eryn Fitch , Katherine Helbig , Jing Gan , Shiva Ganesan , Michael C Kaufman , Colin A Ellis , David Lewis-Smith , Peter Galer , Kristin Cunningham , Margaret O'Brien , Mahgenn Cosico , Kate Baker , Alejandra Darling , Fernanda Veiga de Goes , Christelle M El Achkar , Jan Henje Doering , Francesca Furia , Ángeles García-Cazorla , Elena Gardella , Lisa Geertjens , Courtney Klein , Anna Kolesnik-Taylor , Hanna Lammertse , Jeehun Lee , Alexandra Mackie , Mala Misra-Isrie , Heather Olson , Emma Sexton , Beth Sheidley , Lacey Smith , Luiza Sotero , Hannah Stamberger , Steffen Syrbe , Kim Marie Thalwitzer , Annemiek van Berkel , Mieke van Haelst , Christopher Yuskaitis , Sarah Weckhuysen , Ben Prosser , Charlene Son Rigby , Scott Demarest , Samuel Pierce , Yuehua Zhang , Rikke S Møller , Hilgo Bruining , Annapurna Poduri , Federico Zara , Matthijs Verhage , Pasquale Striano , Ingo Helbig

Modulating effects of FGF12 variants on Na

EBioMedicine

Avec: Simone Seiffert , Manuela Pendziwiat , Tatjana Bierhals , Himanshu Goel , Niklas Schwarz , Amelie van der Ven , Christian Malte Boßelmann , Johannes Lemke , Steffen Syrbe , Marjolein Hanna Willemsen , Ulrike Barbara Stefanie Hedrich , Ingo Helbig , Yvonne Weber

Generation of an induced pluripotent stem cell line (DHMCi009-A) from an individual with TUBB2A tubulinopathy.

Stem cell research

Avec: Julian Schröter , Hanna Syring , Gudrun Göhring , Stefan Kölker , Thomas Opladen , Georg F Hoffmann , Steffen Syrbe , Sabine Jung-Klawitter

Epilepsy surgery in early infancy: A retrospective, multicenter study.

Epilepsia open

Avec: Konstantin L Makridis , Kerstin Alexandra Klotz , Georgia Ramantani , Lena-Luise Becker , Victoria San Antonio-Arce , Steffen Syrbe , Kathrin Wagner , Mukesch Johannes Shah , Ulrich-Wilhelm Thomale , Anna Tietze , Christian E Elger , Ingo Borggraefe , Angela M Kaindl

ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.

Human molecular genetics

Avec: Maria W A Teunissen , Elly Lewerissa , Eline J H van Hugte , Shan Wang , Charlotte W Ockeloen , David A Koolen , Rolph Pfundt , Carlo L M Marcelis , Eva Brilstra , Jennifer L Howe , Stephen W Scherer , Xavier Le Guillou , Frédéric Bilan , Michelle Primiano , Jasmin Roohi , Amelie Piton , Anne de Saint Martin , Sarah Baer , Simone Seiffert , Konrad Platzer , Rami Abou Jamra , Steffen Syrbe , Jan H Doering , Shenela Lakhani , Srishti Nangia , Christian Gilissen , R Jeroen Vermeulen , Rob P W Rouhl , Han G Brunner , Marjolein H Willemsen , Nael Nadif Kasri

Long-term use of everolimus for refractory arrhythmia in a child with tuberous sclerosis complex.

American journal of medical genetics. Part A

Avec: Christoph Hofmann , Steffen Syrbe , Joachim Hebe , Jannis Kreft , Sebastian Stark , Till Milde , Mirko Völkers , Georg Friedrich Hoffmann , Matthias Gorenflo , Alexander Kovacevic

Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic

Neurology. Genetics

Avec: Saskia B Wortmann , Rene G Feichtinger , Lucia Abela , Loes A van Gemert , Mélodie Aubart , Claire-Marine Dufeu-Berat , Nathalie Boddaert , Rene de Coo , Lara Stühn , Jasmijn Hebbink , Wolfram Heinritz , Julia Hildebrandt , Nastassja Himmelreich , Christoph Korenke , Anna Lehman , Thomas Leyland , Christine Makowski , Rafael Jenaro Martinez Marin , Pauline Marzin , Chris Mühlhausen , Marlène Rio , Agnes Rotig , Charles-Joris Roux , Manuel Schiff , Tobias B Haack , Steffen Syrbe , Stas A Zylicz , Christian Thiel , Maria Veiga da Cunha , Emile van Schaftingen , Matias Wagner , Johannes A Mayr , Ron A Wevers , Eugen Boltshauser , Michel A Willemsen

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.

Neurosurgical review

Avec: Mohammed Issa , Vasiliki Kalliri , Sara Euteneuer , Arne Krümpelmann , Angelika Seitz , Olaf Sommerburg , Jens H Westhoff , Steffen Syrbe , Pavlina Lenga , Martin Grutza , Moritz Scherer , Jan-Oliver Neumann , Ingo Baumann , Andreas W Unterberg , Ahmed El Damaty

Réseau de co-auteurs

Steffen Syrbe 71 collaborations

Rikke S Møller 17 collaborations

Stefan Kölker 16 collaborations

Georg F Hoffmann 15 collaborations

Johannes R Lemke 15 collaborations

Thomas Bast 14 collaborations

Julian Schröter 10 collaborations

Rami Abou Jamra 9 collaborations

Astrid Bertsche 9 collaborations

Susanne Schubert-Bast 9 collaborations

Gerhard Kurlemann 9 collaborations

Hiltrud Muhle 9 collaborations

Ingo Helbig 8 collaborations

Konrad Platzer 8 collaborations

Frauke Hornemann 8 collaborations

Kerstin A Klotz 8 collaborations

Gerhard Kluger 8 collaborations

Adam Strzelczyk 8 collaborations

Andreas Merkenschlager 7 collaborations

Ilona Krey 7 collaborations

Gaetan Lesca 7 collaborations

Andreas Ziegler 7 collaborations

Thomas Mayer 7 collaborations

Julia Jacobs 7 collaborations

Adelheid Wiemer-Kruel 7 collaborations

Boris Keren 6 collaborations

Susanne Ruf 6 collaborations

Regina Trollmann 6 collaborations

Ulrich Bettendorf 6 collaborations

Felix Rosenow 6 collaborations

Jan-Ulrich Schlump 6 collaborations

Bernd Wilken 6 collaborations

Andreas Hahn 6 collaborations

None None 5 collaborations

Heiko Brennenstuhl 5 collaborations

Sven F Garbade 5 collaborations

Annick Klabunde-Cherwon 5 collaborations

Johann Philipp Zöllner 5 collaborations

Tilman Polster 5 collaborations

Julie Xian 5 collaborations

Afshin Saffari 5 collaborations

Ingo Borggraefe 5 collaborations

Elisabeth Schuler 5 collaborations

Christoph Hertzberg 5 collaborations

Hans Hartmann 5 collaborations

Charlotte Thiels 5 collaborations

Rolph Pfundt 4 collaborations

Manuela Pendziwiat 4 collaborations

Thomas Opladen 4 collaborations

Elena Gardella 4 collaborations

Julia Hentschel 4 collaborations

Sarah von Spiczak 4 collaborations

Pia Zacher 4 collaborations

Jan H Döring 4 collaborations

Bernt Popp 4 collaborations

Pasquale Striano 4 collaborations

Federico Zara 4 collaborations

Sarah Weckhuysen 4 collaborations

Guido Rubboli 4 collaborations

Victoria San Antonio-Arce 4 collaborations

Charlene Son Rigby 4 collaborations

Sarah M Ruggiero 4 collaborations

Janina Grau 4 collaborations

Ilka Immisch 4 collaborations

Markus Knuf 4 collaborations

Klaus Marquard 4 collaborations

Sascha Meyer 4 collaborations

Karen Müller-Schlüter 4 collaborations

Matthias Sauter 4 collaborations

Jonas Denecke 3 collaborations

Diana Le Duc 3 collaborations

Thatjana Gardeitchik 3 collaborations

Kirsty McWalter 3 collaborations

Perrine Charles 3 collaborations

Tobias B Haack 3 collaborations

Katherine L Helbig 3 collaborations

Caroline Nava 3 collaborations

Anita Rauch 3 collaborations

Siddharth Banka 3 collaborations

Katrine M Johannesen 3 collaborations

Holger Lerche 3 collaborations

Cyril Mignot 3 collaborations

Matias Wagner 3 collaborations

Markus Wolff 3 collaborations

Kim M Thalwitzer 3 collaborations

Katie Rose Sullivan 3 collaborations

Walid Fazeli 3 collaborations

Markus Ries 3 collaborations

Allan Bayat 3 collaborations

Kern Olofsson 3 collaborations

Rhonda E Schnur 3 collaborations

Amber Begtrup 3 collaborations

Heinrich Sticht 3 collaborations

Jan Henje Döring 3 collaborations

Ulrike Mütze 3 collaborations

Hannah Stamberger 3 collaborations

An-Sofie Schoonjans 3 collaborations

Andreas Schulze-Bonhage 3 collaborations

Tobias Dietel 3 collaborations

Christian Malte Boßelmann 3 collaborations

Yvonne Weber 3 collaborations

Shridhar Parthasarathy 3 collaborations

James Goss 3 collaborations

Michael Boland 3 collaborations

Ben Prosser 3 collaborations

Georg Friedrich Hoffmann 3 collaborations

Matthias Kieslich 3 collaborations

Marjolein H Willemsen 3 collaborations

Barbara Fiedler 3 collaborations

Laurent M Willems 3 collaborations

Karl Martin Klein 3 collaborations

Felix von Podewils 3 collaborations

Sabine Jung-Klawitter 3 collaborations

Jessika Johannsen 2 collaborations

Aida Telegrafi 2 collaborations

Claudia Schob 2 collaborations

Stefan Kindler 2 collaborations

John Pappas 2 collaborations

Rachel Rabin 2 collaborations

Tony Roscioli 2 collaborations

Han G Brunner 2 collaborations

Christian Kubisch 2 collaborations

Andrea Accogli 2 collaborations

Christèle Dubourg 2 collaborations

Solveig Heide 2 collaborations

Delphine Héron 2 collaborations

Hester Y Kroes 2 collaborations

Carlo L M Marcelis 2 collaborations

Paul R Mark 2 collaborations

Saadet Mercimek-Andrews 2 collaborations

Richard Person 2 collaborations

Niklas Schwarz 2 collaborations

Thomas Smol 2 collaborations

Katharina Steindl 2 collaborations

Isabelle Thiffault 2 collaborations

Julie Vogt 2 collaborations

Lance H Rodan 2 collaborations

Gwendolyn Gramer 2 collaborations

Jürgen G Okun 2 collaborations

Henrike O Heyne 2 collaborations

Andreas Brunklaus 2 collaborations

Dennis Lal 2 collaborations

Christina D Fenger 2 collaborations

Dragan Marjanovic 2 collaborations

Ingrid E Scheffer 2 collaborations

Bigna K Bölsterli 2 collaborations

Eugen Boltshauser 2 collaborations

Christine Makowski 2 collaborations

Johannes A Mayr 2 collaborations

Saskia B Wortmann 2 collaborations

Margarita Maltseva 2 collaborations

Bernd A Neubauer 2 collaborations

Silke Flege 2 collaborations

Lara Kay 2 collaborations

Alexandre N Datta 2 collaborations

Janina Gburek-Augustat 2 collaborations

Christine Prager 2 collaborations

Dagmar Wieczorek 2 collaborations

Georgia Ramantani 2 collaborations

Clara Houdayer 2 collaborations

Reza Maroofian 2 collaborations

Henry Houlden 2 collaborations

Patrick Van Bogaert 2 collaborations

Lynn Pais 2 collaborations

Anne O'Donnell-Luria 2 collaborations

Grace E VanNoy 2 collaborations

Fowzan S Alkuraya 2 collaborations

Vincent Procaccio 2 collaborations

Guy Lenaers 2 collaborations

Estelle Colin 2 collaborations

Dominique Bonneau 2 collaborations

Jan H Doering 2 collaborations

Stephen W Scherer 2 collaborations

Frank Leypoldt 2 collaborations

Antonio Vitobello 2 collaborations

Reza Asadollahi 2 collaborations

Tatjana Bierhals 2 collaborations

Theresia Herget 2 collaborations

Cornelia Kraus 2 collaborations

Katrin Õunap 2 collaborations

Korbinian M Riedhammer 2 collaborations

Manuel Schiff 2 collaborations

Marjolaine Willems 2 collaborations

Martina Fiannacca 2 collaborations

Mark P Fitzgerald 2 collaborations

Boudewijn Gunning 2 collaborations

Gaétan Lesca 2 collaborations

Nienke Verbeek 2 collaborations

Stephanie Baulac 2 collaborations

Antonietta Coppola 2 collaborations

Berten Ceulemans 2 collaborations

Massimiliano Rossi 2 collaborations

Geneviève Demarquay 2 collaborations

Nathalie Villeneuve 2 collaborations

David A Koolen 2 collaborations

Bernhard J Steinhoff 2 collaborations

Kathrine M Johannesen 2 collaborations

Christiane Hikel 2 collaborations

Diane Beysen 2 collaborations

Meret Wegler 2 collaborations

Arjan Bouman 2 collaborations

Jan Magielski 2 collaborations

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