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Oriane Trouillard

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Juliette Piard; Oriane Trouillard; Boris Keren; Perrine Charles; Christel Depienne; Estelle Fédirko; Delphine Heron
Intragenic deletion of UBE3A gene in 2 sisters with Angelman syndrome detected by MLPA.
Cyril Mignot; Fanny Morice-Picard; Marie-Laure Moutard; Oriane Trouillard; Dorothée Ville; Benoît Arveiler; Perrine Charles; Catherine Chiron; Christel Depienne; Isabelle Gourfinkel-An; Aurélia Jacquette; Didier Lacombe; Eric LeGuern; Delphine Héron
STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.
Philippe Couarch; Christel Depienne; Olivier Dulac; Estelle Fedirko; Svetlana Gataullina; Isabelle Gourfinkel-An; Eric LeGuern; Gaëtan Lesca; Pascual Sanz; Dominique Steschenko; Oriane Trouillard; Santiago Vernia; Stéphanie Baulac
Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism.

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All Publications

2011: Juliette Piard; Oriane Trouillard; Boris Keren; Perrine Charles; Christel Depienne; Estelle Fédirko; Delphine Heron
Intragenic deletion of UBE3A gene in 2 sisters with Angelman syndrome detected by MLPA.
American journal of medical genetics. Part A 2011;155A(12):3170-3.
2011: Cyril Mignot; Fanny Morice-Picard; Marie-Laure Moutard; Oriane Trouillard; Dorothée Ville; Benoît Arveiler; Perrine Charles; Catherine Chiron; Christel Depienne; Isabelle Gourfinkel-An; Aurélia Jacquette; Didier Lacombe; Eric LeGuern; Delphine Héron
STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.
Epilepsia 2011;52(10):1820-7.
2011: Philippe Couarch; Christel Depienne; Olivier Dulac; Estelle Fedirko; Svetlana Gataullina; Isabelle Gourfinkel-An; Eric LeGuern; Gaëtan Lesca; Pascual Sanz; Dominique Steschenko; Oriane Trouillard; Santiago Vernia; Stéphanie Baulac
Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism.
Journal of molecular medicine (Berlin, Germany) 2011;89(9):915-25.
2011: Christel Depienne; Oriane Trouillard; Delphine Bouteiller; Isabelle Gourfinkel-An; Karine Poirier; François Rivier; Patrick Berquin; Rima Nabbout; Denys Chaigne; Dominique Steschenko; Agnès Gautier; Dorota Hoffman-Zacharska; Annie Lannuzel; Marilyn Lackmy-Port-Lis; Hélène Maurey; Anne Dusser; Marie Bru; Brigitte Gilbert-Dussardier; Agathe Roubertie; Anna Kaminska; Sandra Whalen; Cyril Mignot; Stéphanie Baulac; Gaëtan Lesca; Alexis Arzimanoglou; Eric LeGuern
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.
Human mutation 2011;32(1):E1959-75.
2010: Christel Depienne; Oriane Trouillard; Isabelle Gourfinkel-An; Cécile Saint-Martin; Delphine Bouteiller; Denis Graber; Marie-Anne Barthez-Carpentier; Agnès Gautier; Nathalie Villeneuve; Charlotte Dravet; Marie-Odile Livet; Clothilde Rivier-Ringenbach; Claude Adam; Sophie Dupont; Stéphanie Baulac; Delphine Héron; Rima Nabbout; Eric LeGuern
Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.
Journal of medical genetics 2010;47(6):404-10.
2009: Rima Nabbout; Christel Depienne; Mathilde Chipaux; Benoit Girard; Isabelle Souville; Oriane Trouillard; Olivier Dulac; Jamel Chelly; Alexandra Afenjar; Delphine Héron; Eric LeGuern; Cherif Beldjord; Thierry Bienvenu; Nadia Bahi-Buisson
CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy.
Epilepsy research 2009;87(1):25-30.
2009: Christel Depienne; Daniel Moreno-De-Luca; Delphine Heron; Delphine Bouteiller; Aurélie Gennetier; Richard Delorme; Pauline Chaste; Jean-Pierre Siffroi; Sandra Chantot-Bastaraud; Baya Benyahia; Oriane Trouillard; Gudrun Nygren; Svenny Kopp; Maria Johansson; Maria Rastam; Lydie Burglen; Eric LeGuern; Alain Verloes; Marion Leboyer; Alexis Brice; Christopher Gillberg; Catalina Betancur
Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders.
Biological psychiatry 2009;66(4):349-59.
2009: Christel Depienne; Oriane Trouillard; C Saint-Martin; Isabelle Gourfinkel-An; D Bouteiller; W Carpentier; B Keren; B Abert; A Gautier; Stéphanie Baulac; Alexis Arzimanoglou; C Cazeneuve; Rima Nabbout; Eric LeGuern
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.
Journal of medical genetics 2009;46(3):183-91.
2009: Christel Depienne; Delphine Bouteiller; Boris Keren; Emmanuel Cheuret; Karine Poirier; Oriane Trouillard; Baya Benyahia; Chloé Quelin; 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; Cécile Cazeneuve; Merle Ruberg; Alexis Brice; Rima Nabbout; Eric LeGuern
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.
PLoS genetics 2009;5(2):e1000381.
2009: Christel Depienne; D Heron; M Leboyer; Eric LeGuern; Oriane Trouillard; Alain Verloes; Baya Benyahia; C Betancur; D Bouteiller; A Brice
Autism, language delay and mental retardation in a patient with 7q11 duplication.
BMJ case reports 2009;2009():.
2007: Elodie Chabrol; Isabelle Gourfinkel-An; Ingrid E Scheffer; Fabienne Picard; Philippe Couarch; Samuel F Berkovic; Jacinta M McMahon; Nandita Bajaj; Luisa Mota-vieira; Rui Mota; Oriane Trouillard; Christel Depienne; Michel Baulac; Eric LeGuern; Stéphanie Baulac
Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy.
Epilepsy research 2007;76(1):41-8.
2007: Christel Depienne; D Heron; C Betancur; B Benyahia; Oriane Trouillard; D Bouteiller; Alain Verloes; Eric LeGuern; M Leboyer; Alexis Brice
Autism, language delay and mental retardation in a patient with 7q11 duplication.
Journal of medical genetics 2007;44(7):452-8.
2007: Elodie Chabrol; Cyprian Popescu; Isabelle Gourfinkel-An; Oriane Trouillard; Christel Depienne; Kristen Senechal; Michel Baulac; Eric LeGuern; Stéphanie Baulac
Two novel epilepsy-linked mutations leading to a loss of function of LGI1.
Archives of neurology 2007;64(2):217-22.
2006: Christel Depienne; Alexis Arzimanoglou; Oriane Trouillard; Estelle Fedirko; Stéphanie Baulac; Cécile Saint-Martin; Merle Ruberg; Charlotte Dravet; Rima Nabbout; Michel Baulac; Isabelle Gourfinkel-An; Eric LeGuern
Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy.
Human mutation 2006;27(4):389.
2004: Oriane Trouillard; Lucinda Aguirre-Cruz; Khê Hoang-Xuan; Yannick Marie; Jean-Yves Delattre; Marc Sanson
Parental 19q loss and PEG3 expression in oligodendrogliomas.
Cancer genetics and cytogenetics 2004;151(2):182-3.