M
Markus Wolff
Researcher at Boston Children's Hospital
Publications - 66
Citations - 4393
Markus Wolff is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Epilepsy & Encephalopathy. The author has an hindex of 25, co-authored 62 publications receiving 3430 citations. Previous affiliations of Markus Wolff include University of Tübingen & University of Southern Denmark.
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Journal ArticleDOI
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Markus Wolff,Katrine M Johannesen,Ulrike B. S. Hedrich,Silvia Masnada,Guido Rubboli,Elena Gardella,Gaetan Lesca,Gaetan Lesca,Dorothée Ville,Mathieu Milh,Laurent Villard,Alexandra Afenjar,Sandra Chantot-Bastaraud,Cyril Mignot,Caroline Lardennois,Caroline Nava,Niklas Schwarz,Marion Gérard,Laurence Perrin,Diane Doummar,Stéphane Auvin,Maria J Miranda,Maja Hempel,Eva H. Brilstra,Nine V A M Knoers,Nienke E. Verbeek,Marjan J. A. van Kempen,Kees P.J. Braun,Grazia M.S. Mancini,Saskia Biskup,Konstanze Hörtnagel,Miriam Döcker,Thomas Bast,Tobias Loddenkemper,Lily C. Wong-Kisiel,Friedrich A. M. Baumeister,Walid Fazeli,Pasquale Striano,Robertino Dilena,Elena Fontana,Federico Zara,Gerhard Kurlemann,Joerg Klepper,Jess G. Thoene,Daniel H. Arndt,Nicolas Deconinck,Thomas Schmitt-Mechelke,Oliver Maier,Hiltrud Muhle,Beverly Wical,Claudio Finetti,Reinhard Brückner,Joachim Pietz,Günther Golla,Dinesh V Jillella,Karen Markussen Linnet,Perrine Charles,Ute Moog,Eve Õiglane-Shlik,John F Mantovani,Kristen Park,Marie Deprez,Damien Lederer,Sandrine Mary,Emmanuel Scalais,Laila Selim,Rudy Van Coster,Lieven Lagae,Marina Nikanorova,Helle Hjalgrim,G. Christoph Korenke,Marina Trivisano,Nicola Specchio,Berten Ceulemans,Thomas Dorn,Katherine L. Helbig,Katia Hardies,Hannah Stamberger,Peter De Jonghe,Sarah Weckhuysen,Johannes R. Lemke,Ingeborg Krägeloh-Mann,Ingo Helbig,Ingo Helbig,Gerhard Kluger,Holger Lerche,Rikke S. Møller +86 more
TL;DR: Clinical and experimental data suggest a correlation between age at disease onset, response to sodium channel blockers and the functional properties of mutations in children with SCN2A-related epilepsy, and suggest that mutations associated with early infantile epilepsy result in increased sodium channel activity with gain-of-function.
Journal ArticleDOI
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes
Johannes R. Lemke,Dennis Lal,Eva M. Reinthaler,Isabelle Steiner,Michael Nothnagel,Michael Alber,Kirsten Geider,Bodo Laube,Michael Schwake,Katrin Finsterwalder,Andre Franke,Markus Schilhabel,Johanna A. Jähn,Hiltrud Muhle,Rainer Boor,Wim Van Paesschen,Roberto Caraballo,Natalio Fejerman,Sarah Weckhuysen,Peter De Jonghe,Jan Larsen,Rikke S. Møller,Helle Hjalgrim,Laura Addis,Shan Tang,Elaine Hughes,Deb K. Pal,Kadi Veri,Ulvi Vaher,Tiina Talvik,Petia Dimova,Rosa Guerrero López,José M. Serratosa,Tarja Linnankivi,Anna-Elina Lehesjoki,Susanne Ruf,Markus Wolff,Sarah E. Buerki,Gabriele Wohlrab,Judith Kroell,Alexandre N. Datta,Barbara Fiedler,Gerhard Kurlemann,Gerhard Kluger,Andreas Hahn,D Edda Haberlandt,Christina Kutzer,Jürgen Sperner,Felicitas Becker,Yvonne G. Weber,Martha Feucht,Hannelore Steinböck,Birgit Neophythou,Gabriel M. Ronen,Ursula Gruber-Sedlmayr,Julia Geldner,Robert J. Harvey,Per Hoffmann,Per Hoffmann,Stefan Herms,Stefan Herms,Janine Altmüller,Mohammad R. Toliat,Holger Thiele,Peter Nürnberg,Christian Wilhelm,Ulrich Stephani,Ingo Helbig,Holger Lerche,Fritz Zimprich,Bernd A. Neubauer,Saskia Biskup,Saskia Biskup,Sarah von Spiczak +73 more
TL;DR: Results establish alterations of the gene encoding the NMDA receptor NR2A subunit as a major genetic risk factor for IFE.
Journal ArticleDOI
Targeted next generation sequencing as a diagnostic tool in epileptic disorders
Johannes R. Lemke,Erik Riesch,Tim Scheurenbrand,Max Schubach,Christian Wilhelm,Isabelle Steiner,Jörg Hansen,Carolina Courage,Sabina Gallati,Sarah Burki,Susi Strozzi,Barbara Goeggel Simonetti,Sebastian Grunt,Maja Steinlin,Michael Alber,Markus Wolff,Thomas Klopstock,Eva Christina Prott,Rüdiger Lorenz,Christiane Spaich,Sabine Rona,Maya Lakshminarasimhan,Judith Kröll,Thomas Dorn,Günter Krämer,Matthis Synofzik,Felicitas Becker,Yvonne G. Weber,Holger Lerche,Detlef Böhm,Saskia Biskup +30 more
TL;DR: Epilepsies have a highly heterogeneous background with a strong genetic contribution and the variety of unspecific and overlapping syndromic and nonsyndromic phenotypes often hampers a clear clinical diagnosis and prevents straightforward genetic testing.
Journal ArticleDOI
Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies
Bassel Abou-Khalil,Pauls Auce,Andreja Avbersek,Melanie Bahlo,David J. Balding,Thomas Bast,Larry Baum,Albert J. Becker,Felicitas Becker,Bianca Berghuis,Samuel F. Berkovic,Katja E. Boysen,Jonathan P. Bradfield,Lawrence C. Brody,Russell J. Buono,Ellen Campbell,Gregory D. Cascino,Claudia B. Catarino,Gianpiero L. Cavalleri,Stacey S. Cherny,Krishna Chinthapalli,Alison J. Coffey,Alastair Compston,Antonietta Coppola,Patrick Cossette,John Craig,Gerrit-Jan de Haan,Peter De Jonghe,Carolien G.F. de Kovel,Norman Delanty,Chantal Depondt,Orrin Devinsky,Dennis J. Dlugos,Colin P. Doherty,Christian E. Elger,Johan G. Eriksson,Thomas N. Ferraro,Martha Feucht,Ben Francis,Andre Franke,Jacqueline A. French,Saskia Freytag,Verena Gaus,Eric B. Geller,Christian Gieger,Tracy A. Glauser,Simon Glynn,David Goldstein,Hongsheng Gui,Youling Guo,Kevin Haas,Hakon Hakonarson,Kerstin Hallmann,Sheryl R. Haut,Erin L. Heinzen,Ingo Helbig,Christian Hengsbach,Helle Hjalgrim,Michele Iacomino,Andres Ingason,Jennifer Jamnadas-Khoda,Marvin Johnson,Reetta Kälviäinen,Anne-Mari Kantanen,Dalia Kasperaviciute,Dorothée G.A. Kasteleijn-Nolst Trenité,Heidi E. Kirsch,Robert C. Knowlton,Bobby P. C. Koeleman,Roland Krause,Martin Krenn,Wolfram S. Kunz,Ruben Kuzniecky,Patrick Kwan,Dennis Lal,Yu-Lung Lau,Anna-Elina Lehesjoki,Holger Lerche,Costin Leu,Wolfgang Lieb,Dick Lindhout,Warren D. Lo,Iscia Lopes-Cendes,Daniel H. Lowenstein,Alberto Malovini,Anthony G Marson,Thomas U. Mayer,Mark McCormack,James L. Mills,Nasir Mirza,Martina Moerzinger,Rikke S. Møller,Anne M. Molloy,Hiltrud Muhle,Mark R Newton,Ping-Wing Ng,Markus M. Noethen,Peter Nuernberg,Terence J. O'Brien,Karen Oliver,Aarno Palotie,Faith Pangilinan,Sarah Peter,Slavé Petrovski,Annapurna Poduri,Michael Privitera,Rodney A. Radtke,Sarah Rau,Philipp S. Reif,Eva M. Reinthaler,Felix Rosenow,Josemir W. Sander,Thomas Sander,Theresa Scattergood,Steven C. Schachter,Christoph J. Schankin,Ingrid E. Scheffer,Bettina Schmitz,Susanne Schoch,Pak C. Sham,Jerry J. Shih,Graeme J. Sills,Sanjay M. Sisodiya,Lisa Slattery,Alexander R. H. Smith,David F. Smith,Mike Smith,Philip E. M. Smith,Anja C M Sonsma,Doug Speed,Michael R. Sperling,Bernhard J. Steinhoff,Ulrich Stephani,Remi Stevelink,Konstantin Strauch,Pasquale Striano,H. Stroink,Rainer Surges,K. Meng Tan,Liu Lin Thio,G. Neil Thomas,Marian Todaro,Rossana Tozzi,Maria Stella Vari,Eileen P.G. Vining,Frank Visscher,Sarah von Spiczak,Nicole M. Walley,Yvonne G. Weber,Zhi Wei,Judith L.Z. Weisenberg,Christopher D. Whelan,Peter Widdess-Walsh,Markus Wolff,Stefan Wolking,Wanling Yang,Federico Zara,Fritz Zimprich,Int League Against Epilepsy Conso +158 more
TL;DR: The authors perform genome-wide association studies for 3 broad and 7 subtypes of epilepsy and identify 16 loci - 11 novel - that are further annotated by eQTL and partitioned heritability analyses that provide leads for epilepsy therapies based on underlying pathophysiology.
Journal ArticleDOI
Severe Myoclonic Epilepsy of Infants (Dravet Syndrome): Natural History and Neuropsychological Findings
TL;DR: The data suggest that SMEI can be considered as a prototype of an epileptic encephalopathy, and language capacities were better preserved than visuospatial functions, and behavior improved.