C
Cécile Cazeneuve
Researcher at University of Paris
Publications - 84
Citations - 4998
Cécile Cazeneuve is an academic researcher from University of Paris. The author has contributed to research in topics: Population & Familial Mediterranean fever. The author has an hindex of 37, co-authored 81 publications receiving 4541 citations. Previous affiliations of Cécile Cazeneuve include French Institute of Health and Medical Research & Pierre-and-Marie-Curie University.
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Journal ArticleDOI
Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females
Christel Depienne,Christel Depienne,Delphine Bouteiller,Boris Keren,Emmanuel Cheuret,Karine Poirier,Oriane Trouillard,Baya Benyahia,Chloé Quélin,Wassila Carpentier,Sophie Julia,Alexandra Afenjar,Agnès Gautier,François Rivier,Sophie Meyer,Patrick Berquin,Marie Hélias,Isabelle Py,Serge Rivera,Nadia Bahi-Buisson,Isabelle Gourfinkel-An,Isabelle Gourfinkel-An,Cécile Cazeneuve,Merle Ruberg,Merle Ruberg,Alexis Brice,Alexis Brice,Rima Nabbout,Eric LeGuern,Eric LeGuern +29 more
TL;DR: The identification of an affected mosaic male strongly supports the hypothesis that cellular interference is the pathogenic mechanism of Dravet syndrome and suggests that PCDH19 plays a major role in epileptic encephalopathies, with a clinical spectrum overlapping that of DS.
Journal ArticleDOI
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients
Christel Depienne,Oriane Trouillard,Cécile Saint-Martin,Isabelle Gourfinkel-An,Delphine Bouteiller,Wassila Carpentier,Boris Keren,B Abert,Agnès Gautier,Stéphanie Baulac,Alexis Arzimanoglou,Cécile Cazeneuve,Rima Nabbout,Eric LeGuern +13 more
TL;DR: This mutation spectrum, including whole gene deletions, argues in favour of haploinsufficiency as the main mechanism responsible for Dravet syndrome.
Journal ArticleDOI
SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype–phenotype correlations
Stéphanie Millecamps,François Salachas,Cécile Cazeneuve,Paul H. Gordon,Bernard Bricka,Agnès Camuzat,Lena Guillot-Noel,Odile Russaouen,Gaëlle Bruneteau,Pierre-François Pradat,Nadine Le Forestier,Nadia Vandenberghe,Véronique Danel-Brunaud,Nathalie Guy,Christel Thauvin-Robinet,Lucette Lacomblez,Philippe Couratier,Didier Hannequin,Danielle Seilhean,Isabelle Le Ber,Philippe Corcia,William Camu,Alexis Brice,Guy A. Rouleau,Eric LeGuern,Vincent Meininger +25 more
TL;DR: Clinical comparison of SOD1, TARDBP, FUS and other familial ALS patients (with no mutation in the screened genes) revealed differences in site of onset, age of onset (younger with FUS mutations), and in lifespan (shorter for FUS carriers).
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MEFV-Gene Analysis in Armenian Patients with Familial Mediterranean Fever: Diagnostic Value and Unfavorable Renal Prognosis of the M694V Homozygous Genotype—Genetic and Therapeutic Implications
Cécile Cazeneuve,Tamara Sarkisian,Christophe Pêcheux,Michel Dervichian,Brigitte Nedelec,Philippe Reinert,Alexandre Ayvazyan,Jean Claude Kouyoumdjian,Hasmik Ajrapetyan,Marc Delpech,Michel Goossens,Catherine Dodé,Gilles Grateau,Serge Amselem +13 more
TL;DR: The demonstration of both the diagnostic and prognostic value of MEFV analysis and particular modes of inheritance should lead to new ways for management of FMF-including genetic counseling and therapeutic decisions in affected families.
Journal ArticleDOI
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.
Mireille Claustres,C. Guittard,Dominique Bozon,Francoise Chevalier,C. Verlingue,Claude Férec,Emanuelle Girodon,Cécile Cazeneuve,Thierry Bienvenu,Guy Lalau,Viviane Dumur,Delphine Feldmann,Eric Bieth,Martine Blayau,Christine Clavel,Isabelle Creveaux,M.-C. Malinge,Nicole Monnier,Perrine Malzac,Hervé Mittre,Jean-Claude Chomel,Jean-Paul Bonnefont,Albert Iron,Michèle Chery,Marie des Georges +24 more
TL;DR: The distribution of genotypes, classified according to the expected effect of their mutations on CFTR protein, clearly differed between both populations, and showed a clear geographical and/or ethnic variation in the distribution of the most common CF mutations.