S
Stéphanie Valence
Researcher at University of Paris
Publications - 40
Citations - 1334
Stéphanie Valence is an academic researcher from University of Paris. The author has contributed to research in topics: Medicine & Biology. The author has an hindex of 14, co-authored 30 publications receiving 971 citations. Previous affiliations of Stéphanie Valence include Centre national de la recherche scientifique & French Institute of Health and Medical Research.
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Journal ArticleDOI
Mutations in TUBG1 , DYNC1H1 , KIF5C and KIF2A cause malformations of cortical development and microcephaly
Karine Poirier,Nicolas Lebrun,Nicolas Lebrun,Loic Broix,Loic Broix,Guoling Tian,Yoann Saillour,Yoann Saillour,Cécile Boscheron,Elena Parrini,Stéphanie Valence,Stéphanie Valence,Benjamin Saint Pierre,Benjamin Saint Pierre,Madison Oger,Madison Oger,Didier Lacombe,David Geneviève,Elena Fontana,Franscesca Darra,Claude Cances,Magalie Barth,Dominique Bonneau,Bernardo Dalla Bernadina,Sylvie Nguyen,Cyril Gitiaux,Cyril Gitiaux,Cyril Gitiaux,Philippe Parent,Vincent des Portes,Jean Michel Pedespan,Victoire Legrez,Laetitia Castelnau-Ptakine,Laetitia Castelnau-Ptakine,Patrick Nitschke,Thierry Hieu,Cécile Masson,Diana Zelenika,Annie Andrieux,Fiona Francis,Fiona Francis,Renzo Guerrini,Nicholas J. Cowan,Nadia Bahi-Buisson,Nadia Bahi-Buisson,Nadia Bahi-Buisson,Jamel Chelly,Jamel Chelly +47 more
TL;DR: The discovery of multiple pathogenic missense mutations in TUBG1, DYNC1H1 and KIF2A, as well as a single germline mosaic mutation in KIF5C, in subjects with MCD are reported, suggesting that microtubule-dependent mitotic and postmitotic processes are major contributors to the pathogenesis of MCD.
Journal ArticleDOI
The Wide Spectrum of Tubulinopathies: What Are the Key Features for the Diagnosis?
Nadia Bahi-Buisson,Karine Poirier,Franck J. Fourniol,Yoann Saillour,Yoann Saillour,Stéphanie Valence,Stéphanie Valence,Nicolas Lebrun,Nicolas Lebrun,Marie Hully,Catherine Fallet Bianco,Nathalie Boddaert,Caroline Elie,Karine Lascelles,Isabelle Souville,Cherif Beldjord,Jamel Chelly,Jamel Chelly +17 more
TL;DR: This large cohort further clarifies overlapping phenotypes between tubulinopathies and although current structural data do not allow prediction of mutation-related phenotypes, within each mutated gene there is an associated predominant pattern of cortical dysgenesis allowing some phenotype-genotype correlation.
Journal ArticleDOI
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
Vincenzo Salpietro,Vincenzo Salpietro,Vincenzo Salpietro,Christine L Dixon,Hui Guo,Hui Guo,Oscar D. Bello,Jana Vandrovcova,Stephanie Efthymiou,Reza Maroofian,Gali Heimer,Lydie Burglen,Stéphanie Valence,Erin Torti,Moritz Hacke,Julia Rankin,Huma Tariq,Estelle Colin,Vincent Procaccio,Pasquale Striano,Pasquale Striano,Kshitij Mankad,Andreas Lieb,Sharon Chen,Laura Pisani,Conceição Bettencourt,Roope Männikkö,Andreea Manole,Alfredo Brusco,Enrico Grosso,Giovanni Battista Ferrero,Judith Armstrong-Moron,Sophie Gueden,Omer Bar-Yosef,Michal Tzadok,Kristin G. Monaghan,Teresa Santiago-Sim,Richard E. Person,Megan T. Cho,Rebecca Willaert,Yongjin Yoo,Jong-Hee Chae,Yingting Quan,Huidan Wu,Tianyun Wang,Tianyun Wang,Raphael Bernier,Kun Xia,Alyssa Blesson,Mahim Jain,M. Mahdi Motazacker,Bregje Jaeger,Amy L Schneider,Katja E. Boysen,Alison M. Muir,Candace T. Myers,Ralitza H. Gavrilova,Lauren Gunderson,Laura Schultz-Rogers,Eric W. Klee,David A. Dyment,Matthew Osmond,Matthew Osmond,Mara Parellada,Cloe Llorente,Javier González-Peñas,Angel Carracedo,Arie van Haeringen,Claudia A. L. Ruivenkamp,Caroline Nava,Delphine Héron,Rosaria Nardello,Michele Iacomino,Carlo Minetti,Carlo Minetti,Aldo Skabar,Antonella Fabretto,Miquel Raspall-Chaure,Michael Chez,Anne Tsai,Emily Fassi,Marwan Shinawi,John N. Constantino,Rita De Zorzi,Sara Fortuna,Fernando Kok,Boris Keren,Dominique Bonneau,Murim Choi,Bruria Ben-Zeev,Federico Zara,Heather C Mefford,Ingrid E. Scheffer,Jill Clayton-Smith,Jill Clayton-Smith,Alfons Macaya,James E. Rothman,James E. Rothman,Evan E. Eichler,Dimitri M. Kullmann,Henry Houlden +100 more
TL;DR: The results show that de-novo variants in GRIA2 can cause neurodevelopmental disorders, complementing evidence that other genetic causes of ID, ASD and DEE also disrupt glutamatergic synaptic transmission.
Journal ArticleDOI
Expanding the spectrum of TUBA1A -related cortical dysgenesis to Polymicrogyria
Karine Poirier,Karine Poirier,Yoann Saillour,Yoann Saillour,Franck J. Fourniol,Fiona Francis,Fiona Francis,Isabelle Souville,Stéphanie Valence,Stéphanie Valence,Isabelle Desguerre,Isabelle Desguerre,Isabelle Desguerre,Jean Marie Lepage,Nathalie Boddaert,Nathalie Boddaert,Marine Line Jacquemont,Cherif Beldjord,Jamel Chelly,Jamel Chelly,Nadia Bahi-Buisson,Nadia Bahi-Buisson +21 more
TL;DR: The findings broaden the phenotypic spectrum associated with TUBA1A mutations to PMG and further emphasize that additional brain abnormalities, that is, dysmorphic basal ganglia, hypoplastic pons and cerebellar dysplasia are key features for the diagnosis of TU BA1A-related PMG.
Journal ArticleDOI
A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience
Mélanie Rama,Claire Duflos,Isabelle Melki,Didier Bessis,A. Bonhomme,Hélène Martin,Diane Doummar,Stéphanie Valence,Diana Rodriguez,Emilie Carme,David Geneviève,David Geneviève,Ketil Heimdal,Antonella Insalaco,Nathalie Franck,Viviane Queyrel-Moranne,Nathalie Tieulie,Jonathan London,Florence Uettwiller,Sophie Georgin-Lavialle,Alexandre Belot,Isabelle Koné-Paut,Véronique Hentgen,Guilaine Boursier,Isabelle Touitou,Isabelle Touitou,Guillaume Sarrabay,Guillaume Sarrabay +27 more
TL;DR: The identifying symptoms and genotypes of patients referred to the authors' reference centres and to improve the indications for genetic testing are described to help improve obtaining genetic confirmation of DADA2 in the context of autoinflammatory symptoms.