Carolina Courage
University of Helsinki
21 Papers
48 Citations
Carolina Courage is an academic researcher from University of Helsinki. The author has contributed to research in topics: Medicine & Exome sequencing. The author has an hindex of 11, co-authored 21 publications. Previous affiliations of Carolina Courage include Boston Children's Hospital & University of Bern.
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Papers
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.
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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.
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GRIN2B encephalopathy: Novel findings on phenotype, variant clustering, functional consequences and treatment aspects
Konrad Platzer,Hongjie Yuan,Hannah Schütz,Alexander Winschel,Wenjuan Chen,Chun Hu,Hirofumi Kusumoto,Henrike O. Heyne,Katherine L. Helbig,Sha Tang,Marcia C. Willing,Brad T. Tinkle,Darius J Adams,Christel Depienne,Christel Depienne,Christel Depienne,Boris Keren,Boris Keren,Cyril Mignot,Eirik Frengen,Petter Strømme,Saskia Biskup,Dennis Döcker,Tim M. Strom,Heather C Mefford,Candace T. Myers,Alison M. Muir,Amy Lacroix,Lynette G. Sadleir,Ingrid E. Scheffer,Eva H. Brilstra,Mieke M. van Haelst,Jasper J. van der Smagt,Levinus A. Bok,Rikke S. Møller,Rikke S. Møller,Uffe Birk Jensen,John Millichap,Anne T. Berg,Ethan M. Goldberg,Isabelle De Bie,Stephanie Fox,Philippe Major,Julie R. Jones,Elaine H. Zackai,Rami Abou Jamra,Arndt Rolfs,Richard J. Leventer,Richard J. Leventer,John A. Lawson,Tony Roscioli,Floor E. Jansen,Emmanuelle Ranza,Christian Korff,Anna-Elina Lehesjoki,Carolina Courage,Tarja Linnankivi,Douglas R. Smith,Christine M. Stanley,Mark Mintz,Dianalee McKnight,Amy Decker,Wen-Hann Tan,Mark A. Tarnopolsky,Lauren Brady,Markus Wolff,Lutz Dondit,Helio Pedro,Sarah E Parisotto,Kelly L. Jones,Anup D. Patel,Anup D. Patel,David Neal Franz,Rena Vanzo,Elysa J. Marco,Judith D. Ranells,Nataliya Di Donato,William B. Dobyns,William B. Dobyns,Bodo Laube,Stephen F. Traynelis,Johannes R. Lemke +81 more
TL;DR: Evidence is found that GRIN2B encephalopathy is also frequently associated with movement disorder, cortical visual impairment and MCD revealing novel phenotypic consequences of channelopathies, and an objectifiable beneficial treatment response in the respective patients still remains to be demonstrated.
Neutrophil extracellular trap formation requires OPA1-dependent glycolytic ATP production.
Poorya Amini,Darko Stojkov,Andrea Felser,Christopher B. Jackson,Carolina Courage,André Schaller,Laurent Gelman,Maria Eugenia Soriano,Jean-Marc Nuoffer,Luca Scorrano,Charaf Benarafa,Shida Yousefi,Hans-Uwe Simon +12 more
TL;DR: A critical role for OPA1 in innate immunity is reported and a detrimental effect on host defense capabilities against pathogen infections is shown.
Defining the phenotypic spectrum of SLC6A1 mutations.
Katrine M Johannesen,Elena Gardella,Tarja Linnankivi,Carolina Courage,Anne de Saint Martin,Anna-Elina Lehesjoki,Cyril Mignot,Alexandra Afenjar,Gaetan Lesca,Gaetan Lesca,Marie Thérèse Abi-Warde,Jamel Chelly,Amélie Piton,J. Lawrence Merritt,Lance H. Rodan,Wen-Hann Tan,Lynne M. Bird,Mark Nespeca,Joseph G. Gleeson,Yongjin Yoo,Murim Choi,Jong Hee Chae,Desiree Czapansky-Beilman,Sara Chadwick Reichert,Manuela Pendziwiat,Judith S. Verhoeven,Helenius J. Schelhaas,Orrin Devinsky,Jakob Christensen,Nicola Specchio,Marina Trivisano,Yvonne G. Weber,Caroline Nava,Boris Keren,Diane Doummar,Elise Schaefer,Sarah E. Hopkins,Holly Dubbs,Jessica E. Shaw,Laura Pisani,Candace T. Myers,Sha Tang,Shan Tang,Deb K. Pal,John Millichap,John Millichap,Gemma L. Carvill,Kathrine L. Helbig,Oriano Mecarelli,Pasquale Striano,Ingo Helbig,Ingo Helbig,Guido Rubboli,Heather C Mefford,Rikke S. Møller +54 more
TL;DR: The phenotypic spectrum in a larger cohort of SCL6A1‐mutated patients is defined in patients with myoclonic atonic epilepsy (MAE) and intellectual disability (ID).