C
Caroline Nava
Researcher at University of Paris
Publications - 115
Citations - 5115
Caroline Nava is an academic researcher from University of Paris. The author has contributed to research in topics: Epilepsy & Exome sequencing. The author has an hindex of 32, co-authored 104 publications receiving 3586 citations. Previous affiliations of Caroline Nava include French Institute of Health and Medical Research & Pierre-and-Marie-Curie University.
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Journal ArticleDOI
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments
Claire S. Leblond,Caroline Nava,Anne Polge,Julie Gauthier,Guillaume Huguet,Serge Lumbroso,Fabienne Giuliano,Coline Stordeur,Christel Depienne,Kevin Mouzat,Dalila Pinto,Jennifer L. Howe,Nathalie Lemière,Christelle M. Durand,Jessica Guibert,Elodie Ey,Roberto Toro,Hugo Peyre,Alexandre Mathieu,Frédérique Amsellem,Maria Råstam,I. Carina Gillberg,Gudrun A. Rappold,Richard Holt,Anthony P. Monaco,Elena Maestrini,Pilar Galan,Delphine Héron,Aurélia Jacquette,Alexandra Afenjar,Agnès Rastetter,Alexis Brice,Françoise Devillard,Brigitte Assouline,Fanny Laffargue,James Lespinasse,Jean Chiesa,François Rivier,Dominique Bonneau,Béatrice Regnault,Diana Zelenika,Marc Delepine,Mark Lathrop,Damien Sanlaville,Caroline Schluth-Bolard,Patrick Edery,Laurence Perrin,Anne Claude Tabet,Michael J. Schmeisser,Tobias M. Boeckers,Mary Coleman,Daisuke Sato,Peter Szatmari,Stephen W. Scherer,Guy A. Rouleau,Catalina Betancur,Marion Leboyer,Christopher Gillberg,Richard Delorme,Thomas Bourgeron +59 more
TL;DR: Mutations of the SHANK genes were detected in the whole spectrum of autism with a gradient of severity in cognitive impairment and the clinical relevance of these genes remains to be ascertained.
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
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
Fadi F. Hamdan,Candace T. Myers,Patrick Cossette,Philippe Lemay,Dan Spiegelman,Alexandre D. Laporte,Christina Nassif,Ousmane Diallo,Jean Monlong,Maxime Cadieux-Dion,Maxime Cadieux-Dion,Sylvia Dobrzeniecka,Caroline Meloche,Kyle Retterer,Megan T. Cho,Jill A. Rosenfeld,Weimin Bi,Christine Massicotte,Marguerite Miguet,Ledia Brunga,Brigid M. Regan,Kelly Mo,Cory Tam,Amy L Schneider,Georgie Hollingsworth,David R. FitzPatrick,Alan Donaldson,Natalie Canham,Edward Blair,Bronwyn Kerr,Andrew E. Fry,Rhys H. Thomas,Joss Shelagh,Jane A. Hurst,Helen Brittain,Moira Blyth,Robert Roger Lebel,Erica H. Gerkes,Laura Davis-Keppen,Quinn Stein,Wendy K. Chung,Sara J. Dorison,Paul J. Benke,Emily Fassi,Nicole Corsten-Janssen,Erik-Jan Kamsteeg,Frédéric Tran Mau-Them,Ange-Line Bruel,Alain Verloes,Katrin Õunap,Monica H. Wojcik,Monica H. Wojcik,Dara V.F. Albert,Sunita Venkateswaran,Tyson L Ware,D. L. Jones,Yu Chi Liu,Yu Chi Liu,Shekeeb S. Mohammad,Peyman Bizargity,Carlos A. Bacino,Carlos A. Bacino,Vincenzo Leuzzi,Simone Martinelli,Bruno Dallapiccola,Marco Tartaglia,Lubov Blumkin,Klaas J. Wierenga,Gabriela Purcarin,James J. O'Byrne,Sylvia Stockler,Anna Lehman,Boris Keren,Marie-Christine Nougues,Cyril Mignot,Stéphane Auvin,Caroline Nava,Susan M. Hiatt,Martina Bebin,Yunru Shao,Fernando Scaglia,Seema R. Lalani,Richard E. Frye,Imad Jarjour,Stéphanie Jacques,Renee-Myriam Boucher,Emilie Riou,Myriam Srour,Lionel Carmant,Lionel Carmant,Anne Lortie,Philippe Major,Paola Diadori,François Dubeau,Guy D'Anjou,Guillaume Bourque,Samuel F. Berkovic,Lynette G. Sadleir,Philippe M. Campeau,Philippe M. Campeau,Zoha Kibar,Zoha Kibar,Ronald G. Lafrenière,Simon Girard,Simon Girard,Simon Girard,Saadet Mercimek-Mahmutoglu,Cyrus Boelman,Guy A. Rouleau,Ingrid E. Scheffer,Ingrid E. Scheffer,Ingrid E. Scheffer,Heather C Mefford,Danielle M. Andrade,Elsa Rossignol,Elsa Rossignol,Berge A. Minassian,Berge A. Minassian,Jacques L. Michaud,Jacques L. Michaud +119 more
TL;DR: De novo missense variants explained a larger proportion of individuals in the series than in other series that were primarily ascertained because of ID, indicating that the genetic landscape of DEE might be different from that of ID without epilepsy.
Journal ArticleDOI
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome
Caroline Nava,Nadine Hanna,Caroline Michot,Sabrina Pereira,Nathalie Pouvreau,Tetsuya Niihori,Yoko Aoki,Yoichi Matsubara,Benoit Arveiler,Didier Lacombe,Eric Pasmant,Béatrice Parfait,Clarisse Baumann,Delphine Héron,Sabine Sigaudy,Annick Toutain,Marlène Rio,Alice Goldenberg,Bruno Leheup,Alain Verloes,Hélène Cavé +20 more
TL;DR: Results confirm that KRAS is a minor contributor to NS and show that MEK is involved in some cases of NS, demonstrating a phenotypic continuum between the clinical entities.
Journal ArticleDOI
De novo mutations in HCN1 cause early infantile epileptic encephalopathy
Caroline Nava,Carine Dalle,Agnès Rastetter,Pasquale Striano,Carolien G.F. de Kovel,Rima Nabbout,Claude Cances,Dorothée Ville,Eva H. Brilstra,Giuseppe Gobbi,Emmanuel Raffo,Delphine Bouteiller,Yannick Marie,Oriane Trouillard,Angela Robbiano,Boris Keren,Dahbia Agher,Emmanuel Roze,Suzanne Lesage,Aude Nicolas,Alexis Brice,Michel Baulac,Cornelia Vogt,Nady El Hajj,Eberhard Schneider,Arvid Suls,Sarah Weckhuysen,Padhraig Gormley,Anna-Elina Lehesjoki,Peter De Jonghe,Ingo Helbig,Stéphanie Baulac,Federico Zara,Bobby P. C. Koeleman,Thomas Haaf,Eric LeGuern,Christel Depienne +36 more
TL;DR: Exome sequencing for parent-offspring trios with fever-sensitive, intractable epileptic encephalopathy led to the discovery of two de novo missense HCN1 mutations, providing clear evidence that de noVOHCN1 point mutations cause a recognizable early-onset epilepticEncephalopathy in humans.