Kim M Thalwitzer

Affiliations

From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (K.M.T., J.X., S.M.R., K.R.S., I.H.), Division of Neurology (J.X., S.M.R., K.R.S., I.H.), and Department of Biomedical and Health Informatics (DBHi) (J.X., I.H.), Children's Hospital of Philadelphia, PA; Epilepsy Center Kleinwachau (P.Z.), Radeberg, Germany; Department of Neuropediatrics and Children's Research Center (B.K.B., G.R.), University Children's Hospital Zurich, University of Zurich; Department of Pediatric Neurology (B.K.B.), Children's Hospital of Eastern Switzerland, Sankt Gallen; Department of Pediatric Neurology and Developmental Medicine (A.N.D.), University Children's Hospital Basel UKBB, Switzerland; Department of Neurology (C.K.), Klinikum Osnabrück; Epilepsy Center (C.K.), Münster-Osnabrück, Campus Osnabrück; Department of Pediatrics (J.A.), Christophorus Hospital Coesfeld; Epilepsy Center Kork (A.W.-K.), Clinic for Children and Adolescents, Kehl-Kork; Department of Neuropediatrics (A.v.B., M.L.), University Medical Center Schleswig-Holstein, Kiel University (CAU); Center for Social Pediatrics (A.P.), Johannes Wesling Klinikum Minden; Department of Pediatric Neurology and Developmental Medicine (M.A.), University Children's Hospital, Tübingen, Germany; Department of Pediatric Neurology (H.M.H.B.), Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Pediatrics (O.M.D.), Clemenshospital Münster; Department of Pediatrics (J.D.), University Medical Center Hamburg-Eppendorf; Division of Pediatric Neurology (E.H.), Department of Pediatrics and Adolescent Medicine, University Medical Center Göttingen; Kinderärzte Ammersee (I. Breitweg), Neubruch 1, Inning an Ammersee; Department of Neuropediatrics (D.D.), University Hospital Giessen; Department of Neuropediatrics (H.E.), Klinikum Esslingen; Division of Neuropediatrics (J.G.-A.), Hospital for Children and Adolescents, University Hospital Leipzig, Germany; Department of Neuropediatrics (M.P.), Children University Hospital and Paracelsus Medical University, Salzburg, Austria; Department of Neuropediatrics (J.-U.S.), Gemeinschaftskrankenhaus Herdecke; Department of Pediatrics and Adolescent Medicine (D.M.), and Center for Social Pediatrics (D.M.), University Hospital Erlangen, Friedrich-Alexander-Universität (FAU); Department of Pediatric Neurology (C.W.), SRH Zentralklinikum Suhl; Department of Pediatric Neurology (C.P.), and Center for Chronically Sick Children (C.P.), Charité-Universitätsmedizin Berlin; Department of Pediatric Neurology (C.L.-N.), Klinikum Mutterhaus der Borromäerinnen gGmbH, Trier; Séguin-Clinic for Persons with Severe Intellectual Disability (P.M.), Epilepsy Centre Kork; Medical Faculty (P.M.), University of Freiburg; Institute of Human Genetics (K.P., J.R.L.), University of Leipzig Medical Center; Sana-Krankenhaus Düsseldorf-Gerresheim (I.B.-H.), Academic Teaching Hospital der Heinrich-Heine-University Düsseldorf; Department of Neuropediatrics (K.E.), Sankt Elisabeth, KJF Klinik, Neuburg an der Donau; Department of Neuropediatrics (W.F.), Children's Hospital, University of Bonn; Center of Rare Diseases (J.R.L.), University of Leipzig Medical Center; Klinikum Aschaffenburg-Alzenau (E.R.); Department of Neuropediatrics (B.K.), Klinikum Frankfurt Höchst GmbH; Department of Neuropediatrics (T.L.), University Children's Hospital, Klinikum Oldenburg; Department of Neuropediatrics (H.S.), Klinikum Wolfsburg; Kinderneurologie Thies (B.T.), Lüneburg; Sozialpädiatrisches Zentrum Coburg (F.v.D.); Clinic for Pediatric Kidney-, Liver- and Metabolic Diseases (S.I.), Hannover Medical School; Division of Pediatric Neurology and Developmental Medicine (I. Borggraefe), Department of Pediatrics, University Hospital of the Ludwig-Maximilians-University of Munich; Department of Pediatrics (G.C.), Evangelisches Klinikum Bethel, University Hospital Owl, University Bielefeld; Institute of Human Genetics (D.W.), Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Germany; and Department of Neurology (I.H.), University of Pennsylvania Perelman School of Medicine, Philadelphia.

Publications (6)

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

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

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

A disease concept model for STXBP1-related disorders.

Epilepsia open

Avec: Katie R Sullivan , Sarah M Ruggiero , Julie Xian , Kim M Thalwitzer , Rahma Ali , Sydni Stewart , Mahgenn Cosico , Jackie Steinberg , James Goss , Anna C Pfalzer , Kyle J Horning , Nicole Weitzel , Sydney Corey , Laura Conway , Charlene Son Rigby , Terry Jo Bichell , Ingo Helbig

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

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

Réseau de co-auteurs

Julie Xian 6 collaborations

Ingo Helbig 6 collaborations

Sarah M Ruggiero 5 collaborations

Steffen Syrbe 5 collaborations

Charlene Son Rigby 5 collaborations

James Goss 4 collaborations

Shridhar Parthasarathy 3 collaborations

Ben Prosser 3 collaborations

Katie Rose Sullivan 3 collaborations

Michael Boland 3 collaborations

Eryn Fitch 2 collaborations

Michael C Kaufman 2 collaborations

Kristin Cunningham 2 collaborations

Mahgenn Cosico 2 collaborations

Kim Marie Thalwitzer 2 collaborations

Jan Magielski 2 collaborations

Katie R Sullivan 2 collaborations

Danielle deCampo 2 collaborations

Ganna Balagura 1 collaboration

Katherine Helbig 1 collaboration

Jing Gan 1 collaboration

Shiva Ganesan 1 collaboration

Colin A Ellis 1 collaboration

David Lewis-Smith 1 collaboration

Peter Galer 1 collaboration

Margaret O'Brien 1 collaboration

Kate Baker 1 collaboration

Alejandra Darling 1 collaboration

Fernanda Veiga de Goes 1 collaboration

Christelle M El Achkar 1 collaboration

Jan Henje Doering 1 collaboration

Francesca Furia 1 collaboration

Ángeles García-Cazorla 1 collaboration

Elena Gardella 1 collaboration

Lisa Geertjens 1 collaboration

Courtney Klein 1 collaboration

Anna Kolesnik-Taylor 1 collaboration

Hanna Lammertse 1 collaboration

Jeehun Lee 1 collaboration

Alexandra Mackie 1 collaboration

Mala Misra-Isrie 1 collaboration

Heather Olson 1 collaboration

Emma Sexton 1 collaboration

Beth Sheidley 1 collaboration

Lacey Smith 1 collaboration

Luiza Sotero 1 collaboration

Hannah Stamberger 1 collaboration

Annemiek van Berkel 1 collaboration

Mieke van Haelst 1 collaboration

Christopher Yuskaitis 1 collaboration

Sarah Weckhuysen 1 collaboration

Scott Demarest 1 collaboration

Samuel Pierce 1 collaboration

Yuehua Zhang 1 collaboration

Rikke S Møller 1 collaboration

Hilgo Bruining 1 collaboration

Annapurna Poduri 1 collaboration

Federico Zara 1 collaboration

Matthijs Verhage 1 collaboration

Pasquale Striano 1 collaboration

Jan H Driedger 1 collaboration

Afshin Saffari 1 collaboration

Pia Zacher 1 collaboration

Bigna K Bölsterli 1 collaboration

Sarah McKeown Ruggiero 1 collaboration

Alexandre N Datta 1 collaboration

Christoph Kellinghaus 1 collaboration

Jürgen Althaus 1 collaboration

Adelheid Wiemer-Kruel 1 collaboration

Andreas van Baalen 1 collaboration

Armin Pampel 1 collaboration

Michael Alber 1 collaboration

Hilde M H Braakman 1 collaboration

Otfried M Debus 1 collaboration

Jonas Denecke 1 collaboration

Elke Hobbiebrunken 1 collaboration

Ina Breitweg 1 collaboration

Danielle Diehl 1 collaboration

Hans Eitel 1 collaboration

Janina Gburek-Augustat 1 collaboration

Martin Preisel 1 collaboration

Jan-Ulrich Schlump 1 collaboration

Mirjam Laufs 1 collaboration

Dilbar Mammadova 1 collaboration

Carsten Wurst 1 collaboration

Christine Prager 1 collaboration

Christa Löhr-Nilles 1 collaboration

Peter Martin 1 collaboration

Sven F Garbade 1 collaboration

Konrad Platzer 1 collaboration

Ira Benkel-Herrenbrueck 1 collaboration

Kerstin Egler 1 collaboration

Walid Fazeli 1 collaboration

Johannes R Lemke 1 collaboration

Eva Runkel 1 collaboration

Barbara Klein 1 collaboration

Tobias Linden 1 collaboration

Julian Schröter 1 collaboration

Heike Steffeck 1 collaboration

Bastian Thies 1 collaboration

Florian von Deimling 1 collaboration

Sabine Illsinger 1 collaboration

Ingo Borggraefe 1 collaboration

Georg Classen 1 collaboration

Dagmar Wieczorek 1 collaboration

Georgia Ramantani 1 collaboration

Stefan Koelker 1 collaboration

Georg F Hoffmann 1 collaboration

Markus Ries 1 collaboration

Danielle de Campo 1 collaboration

Rahma Ali 1 collaboration

Sydni Stewart 1 collaboration

Jackie Steinberg 1 collaboration

Anna C Pfalzer 1 collaboration

Kyle J Horning 1 collaboration

Nicole Weitzel 1 collaboration

Sydney Corey 1 collaboration

Laura Conway 1 collaboration

Terry Jo Bichell 1 collaboration

Jillian McKee 1 collaboration

Elise Brimble 1 collaboration

Jonathan Toib 1 collaboration

Samuel R Pierce 1 collaboration

Benjamin Prosser 1 collaboration

Nasha Fitter 1 collaboration