A
Agnès Rastetter
Researcher at University of Paris
Publications - 28
Citations - 1873
Agnès Rastetter is an academic researcher from University of Paris. The author has contributed to research in topics: Gene & Exome sequencing. The author has an hindex of 17, co-authored 26 publications receiving 1525 citations. Previous affiliations of Agnès Rastetter 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
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.
Journal ArticleDOI
Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia
Elodie Martin,Rebecca Schüle,Katrien Smets,Agnès Rastetter,Amir Boukhris,José Leal Loureiro,Michael A. Gonzalez,Emeline Mundwiller,Tine Deconinck,Marc Wessner,Ludmila Jornea,Ludmila Jornea,Ludmila Jornea,Andrés Caballero Oteyza,Alexandra Durr,Jean Jacques Martin,Ludger Schöls,Chokri Mhiri,Foudil Lamari,Stephan Züchner,Peter De Jonghe,Edor Kabashi,Edor Kabashi,Edor Kabashi,Alexis Brice,Giovanni Stevanin +25 more
TL;DR: The role of ceramide metabolism in HSP pathology is highlighted, with next-generation sequencing in three independent families finding four different mutations in GBA2 (three truncating variants and one missense variant) found to cosegregate with the disease and were absent in controls.
Journal ArticleDOI
Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy
Cyril Mignot,Celina von Stülpnagel,Caroline Nava,Dorothée Ville,Damien Sanlaville,Gaetan Lesca,Agnès Rastetter,Benoit Gachet,Yannick Marie,G. Christoph Korenke,Ingo Borggraefe,Dorota Hoffmann-Zacharska,Elżbieta Szczepanik,Mariola Rudzka-Dybała,Uluç Yiş,Hande Caglayan,Arnaud Isapof,Isabelle Marey,Eleni Panagiotakaki,Christian Korff,Eva Rossier,Angelika Riess,Stefanie Beck-Woedl,Anita Rauch,Christiane Zweier,Juliane Hoyer,André Reis,M. B. Mironov,Maria Yurjevna Bobylova,Konstantin Mukhin,Laura Hernandez-Hernandez,Bridget H. Maher,Sanjay M. Sisodiya,Marius Kuhn,Dieter Glaeser,Sarah Weckhuysen,Candace T. Myers,Heather C Mefford,Konstanze Hörtnagel,Saskia Biskup,Johannes R. Lemke,Delphine Héron,Gerhard Kluger,Christel Depienne +43 more
TL;DR: SYNGAP1 encephalopathy is characterised by early neurodevelopmental delay typically preceding the onset of a relatively recognisable epilepsy comprising generalised seizures (absences, myoclonic jerks) and frequent triggers.
Journal ArticleDOI
KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations
Stephan Klebe,Alexander Lossos,Hamid Azzedine,Hamid Azzedine,Hamid Azzedine,Emeline Mundwiller,Emeline Mundwiller,Emeline Mundwiller,Ruth Sheffer,Marion Gaussen,Marion Gaussen,Marion Gaussen,Cecilia Marelli,Magdalena Nawara,Magdalena Nawara,Magdalena Nawara,Wassila Carpentier,Vincent Meyer,Agnès Rastetter,Elodie Martin,Delphine Bouteiller,Delphine Bouteiller,Delphine Bouteiller,Laurent Orlando,Gabor Gyapay,Khalid H. El-Hachimi,Bat-El Zimmerman,Moriya Gamliel,Adel Misk,Israela Lerer,Alexis Brice,Alexandra Durr,Giovanni Stevanin +32 more
TL;DR: Comparison of the clinical features with the nature of the mutations of all reported KIF1A families, including those reported recently with hereditary sensory and autonomic neuropathy, suggests phenotype–genotype correlations that may help to understand the mechanisms involved in motor neuron degeneration.