M
Marina Nikanorova
Researcher at University of Southern Denmark
Publications - 41
Citations - 2509
Marina Nikanorova is an academic researcher from University of Southern Denmark. The author has contributed to research in topics: Epilepsy & Dravet syndrome. The author has an hindex of 20, co-authored 40 publications receiving 1892 citations. Previous affiliations of Marina Nikanorova include University Hospital Heidelberg & University of Copenhagen.
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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
STXBP1 encephalopathy A neurodevelopmental disorder including epilepsy
Hannah Stamberger,Marina Nikanorova,Marjolein H. Willemsen,Patrizia Accorsi,Marco Angriman,Hartmut Baier,Ira Benkel-Herrenbrueck,Valérie Benoit,Mauro Budetta,Almuth Caliebe,Gaetano Cantalupo,Giuseppe Capovilla,Gianluca Casara,Carolina Courage,Marie Deprez,Anne Destree,Robertino Dilena,Corrie E. Erasmus,Madeleine Fannemel,Roar Fjær,Lucio Giordano,Katherine L. Helbig,Henrike O. Heyne,Joerg Klepper,Gerhard Kluger,Damien Lederer,Monica Lodi,Oliver Maier,Andreas Merkenschlager,Nina Michelberger,Carlo Minetti,Hiltrud Muhle,Judith Phalin,Keri Ramsey,Antonino Romeo,Jens Schallner,Ina Schanze,Marwan Shinawi,Kristel Sleegers,Katalin Sterbova,Steffen Syrbe,Monica Traverso,Andreas Tzschach,Peter Uldall,Rudy Van Coster,Helene Verhelst,Maurizio Viri,Susan Winter,Markus Wolff,Martin Zenker,Leonardo Zoccante,Peter De Jonghe,Ingo Helbig,Pasquale Striano,Johannes R. Lemke,Rikke S. Møller,Sarah Weckhuysen +56 more
TL;DR: De novo STXBP1 mutations are among the most frequent causes of epilepsy and encephalopathy with little correlation among seizure onset, seizure severity, and the degree of ID, and it is hypothesize that seizure severity and ID present 2 independent dimensions of the STX BP1-E phenotype.
Journal ArticleDOI
GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome
Gemma L. Carvill,Sarah Weckhuysen,Sarah Weckhuysen,Jacinta M McMahon,Corinna Hartmann,Corinna Hartmann,Rikke S. Møller,Helle Hjalgrim,Helle Hjalgrim,Joseph Cook,Eileen Geraghty,Brian J. O'Roak,Steven Petrou,Alison L. Clarke,Deepak Gill,Lynette G. Sadleir,Hiltrud Muhle,Sarah von Spiczak,Marina Nikanorova,Marina Nikanorova,Bree L. Hodgson,Elena V. Gazina,Arvid Suls,Jay Shendure,Leanne M. Dibbens,Peter De Jonghe,Ingo Helbig,Samuel F. Berkovic,Ingrid E. Scheffer,Ingrid E. Scheffer,Heather C Mefford +30 more
TL;DR: It is shown that GABRA1 and STXBP1 make a significant contribution to Dravet syndrome after SCN1A abnormalities have been excluded, and this has important implications for diagnostic testing, clinical management, and genetic counseling of patients with this devastating disorder and their families.
Journal ArticleDOI
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies
Candace T. Myers,Jacinta M McMahon,Amy L Schneider,Slavé Petrovski,Slavé Petrovski,Andrew S. Allen,Gemma L. Carvill,Matthew Zemel,Julia Saykally,Amy Lacroix,Erin L. Heinzen,Georgina Hollingsworth,Marina Nikanorova,Mark A. Corbett,Jozef Gecz,David Coman,David Coman,Jeremy L. Freeman,Sophie Calvert,Deepak Gill,Patrick W. Carney,Tally Lerman-Sagie,Hugo Sampaio,Patrick Cossette,Norman Delanty,Dennis J. Dlugos,Evan E. Eichler,Michael P. Epstein,Tracy A. Glauser,Marvin Johnson,Ruben Kuzniecky,Anthony G Marson,Terence J. O'Brien,Ruth Ottman,Stephen Petrou,Annapurna Poduri,William O. Pickrell,Seo-Kyung Chung,Mark I. Rees,Elliott H. Sherr,Lynette G. Sadleir,David Goldstein,Daniel H. Lowenstein,Rikke S. Møller,Samuel F. Berkovic,Ingrid E. Scheffer,Heather C Mefford +46 more
TL;DR: The results provide definitive evidence that de novo mutations in SLC1A2 and CACNA1A cause specific EEs and expand the compendium of clinically relevant genotypes for GABRB3 and report a mutation in IQSEC2.
Journal ArticleDOI
Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: a randomised, double-blind, placebo-controlled trial
Lieven Lagae,Joseph Sullivan,Kelly G. Knupp,Linda Laux,Tilman Polster,Marina Nikanorova,Orrin Devinsky,JH Cross,Renzo Guerrini,Dinesh Talwar,Ilene Miller,Gail Farfel,Bradley S. Galer,A Gammaitoni,Arun Mistry,Gilmour Morrison,Michael Lock,Anupam Agarwal,Wyman W. Lai,Berten Ceulemans +19 more
TL;DR: In Dravet syndrome, fenfluramine provided significantly greater reduction in convulsive seizure frequency compared with placebo and was generally well tolerated, with no observed valvular heart disease or pulmonary arterial hypertension.