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Nadia Bahi-Buisson

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Karine Poirier; Yoann Saillour; Isabelle Souville; Stéphanie Valence; Cherif Beldjord; Nathalie Boddaert; Jamel Chelly; Isabelle Desguerre; Franck Fourniol; Fiona Francis; Marine Line Jacquemont; Jean Marie Lepage; Nadia Bahi-Buisson
Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.
Orianne Philippe; Marlène Rio; Vassili Valayannopoulos; Hilde Van Esch; Jeanne Amiel; Nadia Bahi-Buisson; Geneviève Baujat; Nathalie Boddaert; Jean-Paul Bonnefont; Guy Froyen; Roseline Gesny; valerie malan; Arnold Munnich; Laurence Colleaux
NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications.
Chloé Delépine; Juliette Nectoux; Nadia Bahi-Buisson; Jamel Chelly; Thierry Bienvenu
MeCP2 deficiency is associated with impaired microtubule stability.

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All Publications

2013: Karine Poirier; Yoann Saillour; Isabelle Souville; Stéphanie Valence; Cherif Beldjord; Nathalie Boddaert; Jamel Chelly; Isabelle Desguerre; Franck Fourniol; Fiona Francis; Marine Line Jacquemont; Jean Marie Lepage; Nadia Bahi-Buisson
Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.
European journal of human genetics : EJHG 2013;21(4):381-5.
2013: Orianne Philippe; Marlène Rio; Vassili Valayannopoulos; Hilde Van Esch; Jeanne Amiel; Nadia Bahi-Buisson; Geneviève Baujat; Nathalie Boddaert; Jean-Paul Bonnefont; Guy Froyen; Roseline Gesny; valerie malan; Arnold Munnich; Laurence Colleaux
NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications.
European journal of human genetics : EJHG 2013;21(2):195-9.
2013: Chloé Delépine; Juliette Nectoux; Nadia Bahi-Buisson; Jamel Chelly; Thierry Bienvenu
MeCP2 deficiency is associated with impaired microtubule stability.
FEBS letters 2013;587(2):245-53.
2013: Nadia Bahi-Buisson; Renzo Guerrini
Diffuse malformations of cortical development.
Handbook of clinical neurology 2013;111():653-65.
2013: Nadia Bahi-Buisson; Olivier Dulac
Epilepsy in inborn errors of metabolism.
Handbook of clinical neurology 2013;111():533-41.
2013: Nadia Bahi-Buisson
Genetically determined encephalopathy: Rett syndrome.
Handbook of clinical neurology 2013;111():281-6.
2013: Nadia Bahi-Buisson; Cherif Beldjord; Nathalie Boddaert; Jamel Chelly; Caroline Elie; Franck J Fourniol; Fiona Francis; Anne Houdusse; Marie Hully; Reham Khalaf-Nazzal; Carolyn A Moores; Karine Poirier; Isabelle Souville; Aurelie Toussaint; Pierre Louis Leger; Jean Yves Lemaitre
New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum.
Brain : a journal of neurology 2013;136(Pt 1):223-44.
2013: Laure Raymond; François Rivier; Annick Toutain; Nadia Bahi-Buisson; Andre Delahaye; Bertrand Diebold; Valérie Drouin-Garraud; Olivier Dulac; Céline Leroux; Hélène Maurey; Gia Melikishvili; Julia Metreau; Thierry Bienvenu
Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: identification of novel mutations.
Gene 2013;512(1):70-5.
2012: Martin Breuss; Jamel Chelly; Tim Clausen; Nicholas Justin Cowan; Pierre Gressens; Thomas Gstrein; Matilda Haas; Julian Ik-Tsen Heng; Xavier Hubert Jaglin; Marie-Laure Moutard; Linh Ngo; Sandrine Passemard; Karine Poirier; Zhengdong Qu; Deepa Selvi Rani; Kathryn J H Robson; Kumarasamy Thangaraj; Guoling Tian; Alain Verloes; Yunli Xie; Nadia Bahi-Buisson; Andreas Braun; David A Keays
Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities.
Cell reports 2012;2(6):1554-62.
2012: Chloé Quélin; Yoann Saillour; Isabelle Souville; LAURENT VERCUEIL; Cherif Beldjord; Nathalie Boddaert; Jamel Chelly; Fanny Dubois; Anne Elodie Millisher-Bellaiche; Marie Ange N'guyen-Morel; Karine Poirier; Nadia Bahi-Buisson
Mosaic DCX deletion causes subcortical band heterotopia in males.
Neurogenetics 2012;13(4):367-73.
2012: Juliette Miquel; Nathalie Boddaert; Smail Hadj-Rabia; Karine Lascelles; Nadia Bahi-Buisson
Atypical presentation of neuropsychiatric lupus with acanthosis nigricans.
Pediatric neurology 2012;47(4):291-4.
2012: Chloe Quelin; Agathe Roubertie; Yoann Saillour; Cherif Beldjord; Nathalie Boddaert; Jamel Chelly; Isabelle Desguerre; Frank Letourneur; Karine Poirier; Nadia Bahi-Buisson
Focal polymicrogyria are associated with submicroscopic chromosomal rearrangements detected by CGH microarray analysis.
European journal of medical genetics 2012;55(10):527-30.
2012: Ami Bebbington; Jenny Downs; Alan Percy; Mercé Pineda; Bruria Ben Zeev; Nadia Bahi-Buisson; Helen Leonard
The phenotype associated with a large deletion on MECP2.
European journal of human genetics : EJHG 2012;20(9):921-7.
2012: Nadia Bahi-Buisson; Emilie Caietta; Andrée Delahaye; Bertrand Diebold; Aurélia Jacquette; Gert Matthijs; Helene Maurey; Mathieu Milh; Anne Moncla; Hilde Van Esch; Nathalie Villeneuve; Flore Zufferey; Thierry Bienvenu
Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships.
American journal of medical genetics. Part A 2012;158A(7):1612-9.
2012: Elisa Grillo; Anna Hryniewiecka-Jaworska; Francesca Mari; Vlatka Mejaški Bošnjak; Béla Melegh; Mercedes Pineda; Giorgio Pini; Maria Pintaudi; Noémi Polgár; Kirstine Ravn; Judith Armstrong; Nadia Bahi-Buisson; Bruria Ben-Zeev; Thierry Bienvenu; Anne-Marie Bisgaard; Angus Clarke; Francesca Cogliati; Dana Craiu; Aleksandra Djukic; Milena Djuric; Silvia Russo; Edvige Veneselli; Aglaia Vignoli; Laurent Villard; Ana Roche-Martinez; Alessandra Renieri
Rett networked database: an integrated clinical and genetic network of Rett syndrome databases.
Human mutation 2012;33(7):1031-6.
2012: Juliette Nectoux; Sophie Reibel; Nadia Bahi-Buisson; Jamel Chelly; Chloe Delepine; Cedrick Florian; Malik Khelfaoui; Thierry Bienvenu
Altered microtubule dynamics in Mecp2-deficient astrocytes.
Journal of neuroscience research 2012;90(5):990-8.
2012: Alain Verloes; D Ville; Alexandra Afenjar; Nadia Bahi-Buisson; Clarisse Baumann; Thierry Billette de Villemeur; Lydie Burglen; Perrine Charles; Vincent des Portes; A Faudet; Delphine Héron; Aurélia Jacquette; Cyril Mignot; Marie-Laure Moutard; S Passemard; Marlène Rio; L Robel; C Rougeot
[Diagnostic investigations for an unexplained developmental disability].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2012;19(2):194-207.
2012: Vassili Valayannopoulos; Jeanne Amiel; Tania Attié-Bitach; Nadia Bahi-Buisson; Nathalie Boddaert; Francis Brunelle; Lydie Burglen; Jamel Chelly; Jocelyne De Laveaucoupet; Isabelle Desguerre; Ferechté Enza-Razavi; Laurence Hubert; Philippe Labrune; Didier Lacombe; Stanislas LYONNET; Caroline Michot; Diana Rodriguez; Yoann Saillour; Pascale de Lonlay
Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4.
Brain : a journal of neurology 2012;135(Pt 1):e199; author reply e200.
2011: Tangui Le Guen; Yann Fichou; Juliette Nectoux; Nadia Bahi-Buisson; François Rivier; Nathalie Boddaert; Bertrand Diebold; Delphine Héron; Jamel Chelly; Thierry Bienvenu
A missense mutation within the fork-head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localization.
Human mutation 2011;32(2):E2026-35.
2011: Juliette Nectoux; Yann Fichou; nicolas cagnard; Nadia Bahi-Buisson; Patrick Nusbaum; Franck Letourneur; Jamel Chelly; Thierry Bienvenu
Cell cloning-based transcriptome analysis in cyclin-dependent kinase-like 5 mutation patients with severe epileptic encephalopathy.
Journal of molecular medicine (Berlin, Germany) 2011;89(2):193-202.
2011: Tangui Le Guen; Nadia Bahi-Buisson; Juliette Nectoux; Nathalie Boddaert; Yann Fichou; Bertrand Diebold; Isabelle Desguerre; Florence Raqbi; Valérie Cormier Daire; Jamel Chelly; Thierry Bienvenu
A FOXG1 mutation in a boy with congenital variant of Rett syndrome.
Neurogenetics 2011;12(1):1-8.
2011: Mireille Cossée; Laurence Faivre; Christophe Philippe; Heifa Hichri; Anne De Saint-Martin; Vincent Laugel; Nadia Bahi-Buisson; Jean-François Lemaitre; Bruno Leheup; Bruno Delobel; Bénédicte Demeer; Karine Poirier; Valérie Biancalana; Jean-Michel Pinoit; Sophie Julia; Jamel Chelly; Didier Devys; Jean-Louis Mandel
ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia.
American journal of medical genetics. Part A 2011;155A(1):98-105.
2011: Yann Fichou; Juliette Nectoux; Nadia Bahi-Buisson; Jamel Chelly; Thierry Bienvenu
An isoform of the severe encephalopathy-related CDKL5 gene, including a novel exon with extremely high sequence conservation, is specifically expressed in brain.
Journal of human genetics 2011;56(1):52-7.
2010: Jeffrey L Neul; Walter E Kaufmann; Daniel G Glaze; John Christodoulou; Angus J Clarke; Nadia Bahi-Buisson; Helen Leonard; Mark E S Bailey; N Carolyn Schanen; Michele Zappella; Alessandra Renieri; Peter Huppke; Alan K Percy
Rett syndrome: revised diagnostic criteria and nomenclature.
Annals of neurology 2010;68(6):944-50.
2010: Karine Poirier; Yoann Saillour; Nadia Bahi-Buisson; Xavier H Jaglin; Catherine Fallet-Bianco; Rima Nabbout; Laetitia Castelnau-Ptakhine; Agathe Roubertie; Tania Attie-Bitach; Isabelle Desguerre; David Genevieve; Christine Barnerias; Boris Keren; Nicolas Lebrun; Nathalie Boddaert; Féréchté Encha-Razavi; Jamel Chelly
Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects.
Human molecular genetics 2010;19(22):4462-73.
2010: Nadia Bahi-Buisson; Karine Poirier; Nathalie Boddaert; Catherine Fallet-Bianco; Nicola Specchio; Enrico Bertini; Okay Caglayan; Karine Lascelles; Caroline Elie; Jérôme Rambaud; Michel Baulac; Isabelle An; Patricia Dias; Vincent des Portes; Marie-Laure Moutard; Christine Soufflet; Monique El Maleh; Cherif Beldjord; Laurent Villard; Jamel Chelly
GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.
Brain : a journal of neurology 2010;133(11):3194-209.
2010: Nathalie Boddaert; Isabelle Desguerre; Nadia Bahi-Buisson; S Romano; Vassili Valayannopoulos; Yoann Saillour; David J Seidenwurm; D Grevent; L Berteloot; A-S Lebre; M Zilbovicius; S Puget; Rémi Salomon; T Attie-Bitach; Arnold Munnich; F Brunelle; Pascale de Lonlay
Posterior fossa imaging in 158 children with ataxia.
Journal of neuroradiology. Journal de neuroradiologie 2010;37(4):220-30.
2010: Constance Flamand-Rouvière; Emilie Guettard; Caroline Moreau; Nadia Bahi-Buisson; Vassili Valayannopoulos; David Grabli; Jacques Motte; Diana Rodriguez; Agathe Roubertie; Lisa Maintigneux; Isabelle Kemlin; Irène Ceballos-Picot; david adams; Marie Vidailhet; Emmanuel Roze
Speech disturbances in patients with dystonia or chorea due to neurometabolic disorders.
Movement disorders : official journal of the Movement Disorder Society 2010;25(11):1605-11.
2010: Cecilia Bonnet; Agathe Roubertie; Diane Doummar; Nadia Bahi-Buisson; Valérie Cochen de Cock; Emmanuel Roze
Developmental and benign movement disorders in childhood.
Movement disorders : official journal of the Movement Disorder Society 2010;25(10):1317-34.
2010: J Nectoux; Y Fichou; Haydeé Rosas-Vargas; nicolas cagnard; Nadia Bahi-Buisson; Patrick Nusbaum; Franck Letourneur; Jamel Chelly; Thierry Bienvenu
Cell cloning-based transcriptome analysis in Rett patients: relevance to the pathogenesis of Rett syndrome of new human MeCP2 target genes.
Journal of cellular and molecular medicine 2010;14(7):1962-74.
2010: Manoelle Kossorotoff; Coralie Gonin-Flambois; Cyril Gitiaux; Susana Quijano; Nathalie Boddaert; Nadia Bahi-Buisson; Christine Barnerias; Olivier Dulac; Francis Brunelle; Isabelle Desguerre
A cognitive and affective pattern in posterior fossa strokes in children: a case series.
Developmental medicine and child neurology 2010;52(7):626-31.
2010: Sandra El Sabbagh; Anne-Sophie Lebre; Nadia Bahi-Buisson; Pascale DeLonlay; Christine Soufflet; Nathalie Boddaert; Marlène Rio; Agnès Rötig; Olivier Dulac; Arnold Munnich; Isabelle Desguerre
Epileptic phenotypes in children with respiratory chain disorders.
Epilepsia 2010;51(7):1225-35.
2010: Jenny Downs; Sandrine M Géranton; Ami Bebbington; Peter Jacoby; Nadia Bahi-Buisson; David Ravine; Helen Leonard
Linking MECP2 and pain sensitivity: the example of Rett syndrome.
American journal of medical genetics. Part A 2010;152A(5):1197-205.
2010: Nadia Bahi-Buisson; Juliette Nectoux; Benoit Girard; Hilde Van Esch; Thomy De Ravel; Nathalie Boddaert; Perrine Plouin; Marlene Rio; Yann Fichou; Jamel Chelly; Thierry Bienvenu
Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant.
Neurogenetics 2010;11(2):241-9.
2010: Nadia Bahi-Buisson; Benoit Girard; Agnes Gautier; Juliette Nectoux; Yann Fichou; Yoann Saillour; Karine Poirier; Jamel Chelly; Thierry Bienvenu
Epileptic encephalopathy in a girl with an interstitial deletion of Xp22 comprising promoter and exon 1 of the CDKL5 gene.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010;153B(1):202-7.
2010: Philippe Campeau; Vassili Valayannopoulos; Guy Touati; Nadia Bahi-Buisson; Nathalie Boddaert; Perrine Plouin; Daniel Rabier; Jean-François Benoist; Olivier Dulac; Pascale de Lonlay; Isabelle Desguerre
Management of West syndrome in a patient with methylmalonic aciduria.
Journal of child neurology 2010;25(1):94-7.
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: Yann Fichou; Nadia Bahi-Buisson; Juliette Nectoux; Jamel Chelly; Delphine Héron; Laurence Cuisset; Thierry Bienvenu
Mutation in the SLC9A6 gene is not a frequent cause of sporadic Angelman-like syndrome.
European journal of human genetics : EJHG 2009;17(11):1378-80.
2009: Yoann Saillour; Nathalie Carion; Chloé Quelin; Pierre-Louis Leger; Nathalie Boddaert; Caroline Elie; Annick Toutain; Sandra Mercier; Marie-Anne Barthez; Mathieu Milh; Sylvie Joriot; Vincent des Portes; Nicole Philip; Dominique Broglin; Agathe Roubertie; Gaelle Pitelet; Marie-Laure Moutard; Jean-Marc Pinard; Claude Cances; Anna Kaminska; Jamel Chelly; Cherif Beldjord; Nadia Bahi-Buisson
LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity.
Archives of neurology 2009;66(8):1007-15.
2009: Xavier Hubert Jaglin; Karine Poirier; Yoann Saillour; Emmanuelle Buhler; Guoling Tian; Nadia Bahi-Buisson; Catherine Fallet-Bianco; Françoise Phan Dinh Tuy; Xiang-Peng Kong; Pascale Bomont; Laëtitia Castelnau-Ptakhine; Sylvie Odent; Philippe Loget; Manoelle Kossorotoff; Irina Snoeck; Ghislaine Plessis; Philippe Parent; Cherif Beldjord; Carlos Cardoso; Alfonso Represa; Jonathan Flint; David A Keays; Nicholas Justin Cowan; Jamel Chelly
Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria.
Nature genetics 2009;41(6):746-52.
2009: Nathalie Villeneuve; Florence Pinton; Nadia Bahi-Buisson; Olivier Dulac; Catherine Chiron; Rima Nabbout
The ketogenic diet improves recently worsened focal epilepsy.
Developmental medicine and child neurology 2009;51(4):276-81.
2009: Yann Fichou; Juliette Nectoux; Nadia Bahi-Buisson; Haydeé Rosas-Vargas; Benoit Girard; Jamel Chelly; Thierry Bienvenu
The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform.
Neurogenetics 2009;10(2):127-33.
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: Nathalie Boddaert; Mônica Zilbovicius; Anne Philipe; Laurence Robel; Marie Bourgeois; Catherine Barthélemy; David Seidenwurm; Isabelle Meresse; Laurence Laurier; Isabelle Desguerre; Nadia Bahi-Buisson; Francis Brunelle; Arnold Munnich; Yves Samson; Marie-Christine Mouren; Nadia Chabane
MRI findings in 77 children with non-syndromic autistic disorder.
PloS one 2009;4(2):e4415.
2008: Cyril Gitiaux; Emmanuel Roze; Kiyoka Kinugawa; Constance Flamand-Rouvière; Nathalie Boddaert; Emmanuelle Apartis; Vassili Valayannopoulos; Guy Touati; Jacques Motte; David Devos; Karine Mention; Dries Dobbelaere; Diana Rodriguez; Agathe Roubertie; Brigitte Chabrol; François Feillet; Marie Vidailhet; Nadia Bahi-Buisson
Spectrum of movement disorders associated with glutaric aciduria type 1: a study of 16 patients.
Movement disorders : official journal of the Movement Disorder Society 2008;23(16):2392-7.
2008: Nadia Bahi-Buisson; Emmanuel Roze; Carlo Dionisi; Fabienne Escande; Vassili Valayannopoulos; François Feillet; Claudine Heinrichs; Bernadette Chadefaux-Vekemans; Bernard Dan; Pascale de Lonlay
Neurological aspects of hyperinsulinism-hyperammonaemia syndrome.
Developmental medicine and child neurology 2008;50(12):945-9.
2008: Imen Rejeb; Yoann Saillour; Laetitia Castelnau; Cédric Julien; Thierry Bienvenu; Patricia Taga; Habiba Chaabouni; Jamel Chelly; Lamia Ben Jemaa; Nadia Bahi-Buisson
A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features.
European journal of human genetics : EJHG 2008;16(11):1358-63.
2008: Nadia Bahi-Buisson; Juliette Nectoux; Haydeé Rosas-Vargas; Mathieu Milh; Nathalie Boddaert; Benoit Girard; Claude Cances; Dorothée Ville; Alexandra Afenjar; Marlène Rio; Delphine Héron; Marie Ange N'guyen Morel; Alexis Arzimanoglou; Christophe Philippe; Philippe Jonveaux; Jamel Chelly; Thierry Bienvenu
Key clinical features to identify girls with CDKL5 mutations.
Brain : a journal of neurology 2008;131(Pt 10):2647-61.
2008: Nadia Bahi-Buisson; K Poirier; Nathalie Boddaert; Yoann Saillour; L Castelnau; N Philip; G Buyse; L Villard; Sylvie Joriot; S Marret; M Bourgeois; H Van Esch; L Lagae; Jeanne Amiel; Lucie Hertz-Pannier; A Roubertie; F Rivier; J M Pinard; Cherif Beldjord; Jamel Chelly
Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations.
Journal of medical genetics 2008;45(10):647-53.
2008: Pierre-Louis Leger; Isabelle Souville; Nathalie Boddaert; Caroline Elie; Jean Marc Pinard; Perrine Plouin; Marie-Laure Moutard; Vincent des Portes; Hilde Van Esch; Sylvie Joriot; Jean Louis Renard; Jamel Chelly; Fiona Francis; Cherif Beldjord; Nadia Bahi-Buisson
The location of DCX mutations predicts malformation severity in X-linked lissencephaly.
Neurogenetics 2008;9(4):277-85.
2008: Nadia Bahi-Buisson; Sandra El Sabbagh; Christine Soufflet; Fabienne Escande; Nathalie Boddaert; Vassili Valayannopoulos; Christine Bellané-Chantelot; Karine Lascelles; Olivier Dulac; Perrine Plouin; Pascale de Lonlay
Myoclonic absence epilepsy with photosensitivity and a gain of function mutation in glutamate dehydrogenase.
Seizure : the journal of the British Epilepsy Association 2008;17(7):658-64.
2008: Karine Poirier; Monika Eisermann; Isabelle Caubel; Anna Kaminska; Sylviane Peudonnier; Nathalie Boddaert; Yoann Saillour; Olivier Dulac; Isabelle Souville; Cherif Beldjord; Karine Lascelles; Perrine Plouin; Jamel Chelly; Nadia Bahi-Buisson
Combination of infantile spasms, non-epileptic seizures and complex movement disorder: a new case of ARX-related epilepsy.
Epilepsy research 2008;80(2-3):224-8.
2008: Christine Barnerias; Nathalie Boddaert; Pascale Guiraud; Guiraud Pascale; Isabelle Desguerre; Desguerre Isabelle; Lucie Hertz-Pannier; Olivier Dulac; Pascale de Lonlay; Nadia Bahi-Buisson
Unusual magnetic resonance imaging features in Menkes disease.
Brain & development 2008;30(7):489-92.
2008: Nadia Bahi-Buisson; Anna Kaminska; Nathalie Boddaert; Marlène Rio; Alexandra Afenjar; Marion Gérard; Fabienne Giuliano; Jacques Motte; Delphine Héron; Marie Ange N'guyen Morel; Perrine Plouin; Christian Richelme; Vincent des Portes; Olivier Dulac; Christophe Philippe; Catherine Chiron; Rima Nabbout; Thierry Bienvenu
The three stages of epilepsy in patients with CDKL5 mutations.
Epilepsia 2008;49(6):1027-37.
2008: Juliette Nectoux; Nadia Bahi-Buisson; I Guellec; Joel Coste; N De Roux; H Rosas; M Tardieu; Jamel Chelly; Thierry Bienvenu
The p.Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndrome.
Neurology 2008;70(22 Pt 2):2145-51.
2008: Nadia Bahi-Buisson; Eva Guttierrez-Delicado; Christine Soufflet; Marlène Rio; Valérie Cormier Daire; Didier Lacombe; Delphine Héron; Alain Verloes; Sameer M Zuberi; Lydie Burglen; Alexandra Afenjar; Marie-Laure Moutard; P Edery; Antonio Novelli; Laura Bernardini; Olivier Dulac; Rima Nabbout; Perrine Plouin; Agatino Battaglia
Spectrum of epilepsy in terminal 1p36 deletion syndrome.
Epilepsia 2008;49(3):509-15.
2008: Agatino Battaglia; H Eugene Hoyme; Bruno Dallapiccola; Elaine Zackai; Louanne Hudgins; Donna McDonald-McGinn; Nadia Bahi-Buisson; Corrado Romano; Charles A Williams; Lisa L Brailey; Lisa L Braley; Sameer M Zuberi; John C Carey
Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.
Pediatrics 2008;121(2):404-10.
2008: Isabelle Desguerre; Ixtasu Marti; Vassili Valayannopoulos; Nadia Bahi-Buisson; Olivier Dulac; Perrine Plouin; Pascale DeLonlay; Lucie Hertz-Pannier; Nathalie Boddaert
Transient magnetic resonance diffusion abnormalities in West syndrome: the radiological expression of non-convulsive status epilepticus?
Developmental medicine and child neurology 2008;50(2):112-6.
2008: Nathalie Boddaert; S Romano; B Funalot; Marlène Rio; Emmanuelle Sarzi; A S Lebre; Nadia Bahi-Buisson; Vassili Valayannopoulos; Isabelle Desguerre; David J Seidenwurm; Francis Brunelle; F Brami-Zylberberg; Agnès Rötig; Arnold Munnich; Pascale de Lonlay
1H MRS spectroscopy evidence of cerebellar high lactate in mitochondrial respiratory chain deficiency.
Molecular genetics and metabolism 2008;93(1):85-8.
2007: Juliette Nectoux; Benoit Girard; Nadia Bahi-Buisson; Fabienne Prieur; Alexandra Afenjar; Haydeé Rosas-Vargas; Jamel Chelly; Thierry Bienvenu
Netrin G1 mutations are an uncommon cause of atypical Rett syndrome with or without epilepsy.
Pediatric neurology 2007;37(4):270-4.
2007: Nadia Bahi-Buisson; Monika M Eisermann; Sylvie Nivot; Christine Bellanné-Chantelot; Olivier Dulac; Nathalie Bach; Perrine Plouin; Catherine Chiron; Pascale de Lonlay
Infantile spasms as an epileptic feature of DEND syndrome associated with an activating mutation in the potassium adenosine triphosphate (ATP) channel, Kir6.2.
Journal of child neurology 2007;22(9):1147-50.
2007: Anna Kaminska; J Mourdie; Christine Barnerias; Nadia Bahi-Buisson; Perrine Plouin; C Huon
[Management of neonatal seizures].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2007;14(9):1137-51.
2007: Nadia Bahi-Buisson; V Villanueva; Christine Bulteau; Olivier Delalande; Olivier Dulac; Catherine Chiron; Rima Nabbout
Long term response to steroid therapy in Rasmussen encephalitis.
Seizure : the journal of the British Epilepsy Association 2007;16(6):485-92.
2007: Rima Nabbout; Stéphanie Baulac; Isabelle Desguerre; Nadia Bahi-Buisson; Catherine Chiron; Merle Ruberg; Olivier Dulac; Eric LeGuern
New locus for febrile seizures with absence epilepsy on 3p and a possible modifier gene on 18p.
Neurology 2007;68(17):1374-81.
2006: Nadia Bahi-Buisson; Jamel Chelly; Vincent des Portes
[Update on the genetics of X-linked mental retardation].
Revue neurologique 2006;162(10):952-63.
2006: Dorothée Ville; Anna Kaminska; Nadia Bahi-Buisson; Arnaud Biraben; Perrine Plouin; Louise Telvi; Olivier Dulac; Catherine Chiron
Early pattern of epilepsy in the ring chromosome 20 syndrome.
Epilepsia 2006;47(3):543-9.
2006: Christine Barnérias; Irina Giurgea; Lucie Hertz-Pannier; Nadia Bahi-Buisson; Nathalie Boddaert; Pierre Rustin; Agnés Rotig; Isabelle Desguerre; Arnold Munnich; Pascale de Lonlay
Respiratory chain deficiency in a female with Aicardi-Goutières syndrome.
Developmental medicine and child neurology 2006;48(3):227-30.
2006: Nadia Bahi-Buisson; Karine Mention; P L Léger; V Valayanopoulos; Rima Nabbout; Anna Kaminska; Perrine Plouin; Olivier Dulac; Pascale de Lonlay; Isabelle Desguerre
[Neonatal epilepsy and inborn errors of metabolism].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2006;13(3):284-92.
2006: S Romano; Nathalie Boddaert; Isabelle Desguerre; Laurence Hubert; R Salomon; David J Seidenwurm; Nadia Bahi-Buisson; Rima Nabbout; Pascale Sonigo; Stanislas LYONNET; Francis Brunelle; Arnold Munnich; Pascale de Lonlay
Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic study.
Neuropediatrics 2006;37(1):42-5.
2006: Nadia Bahi-Buisson; Anna Kaminska; Rima Nabbout; Christine Barnerias; Isabelle Desguerre; Pascale de Lonlay; Michele Mayer; Perrine Plouin; Olivier Dulac; Catherine Chiron
Epilepsy in Menkes disease: analysis of clinical stages.
Epilepsia 2006;47(2):380-6.
2006: Nadia Bahi-Buisson; Rosanna Savini; Monika M Eisermann; Christine Bulteau; Olivier Dulac; Lucie Hertz-Pannier; Catherine Chiron
Misleading effects of clonazepam in symptomatic electrical status epilepticus during sleep syndrome.
Pediatric neurology 2006;34(2):146-50.
2005: Nadia Bahi-Buisson; Manoelle Kossorotoff; Christine Barnerias; Nathalie Boddaert; Marie Bourgeois; Olivier Dulac; Perrine Plouin; Catherine Chiron; Lucie Hertz-Pannier
Atypical case of hemiconvulsions-hemiplegia-epilepsy syndrome revealing contralateral focal cortical dysplasia.
Developmental medicine and child neurology 2005;47(12):830-4.
2005: Nadia Bahi-Buisson; Rima Nabbout; Perrine Plouin; Christine Bulteau; Olivier Delalande; Lucie Hertz-Pannier; Olivier Dulac; Catherine Chiron
[Recent advances in pathogenic concepts and therapeutic strategies in Rasmussen's encephalitis].
Revue neurologique 2005;161(4):395-405.
2005: Nadia Bahi-Buisson; Dorothée Ville; Monika M Eisermann; Perrine Plouin; Anna Kaminska; Catherine Chiron
[Epilepsy in chromosome aberrations].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2005;12(4):449-58.
2004: Christine Soufflet; Christine Bulteau; Olivier Delalande; Florence Pinton; Claude Jalin; Perrine Plouin; Nadia Bahi-Buisson; Olivier Dulac; Catherine Chiron
The nonmalformed hemisphere is secondarily impaired in young children with hemimegalencephaly: a pre- and postsurgery study with SPECT and EEG.
Epilepsia 2004;45(11):1375-82.
2004: Catherine Chiron; Nadia Bahi-Buisson; Perrine Plouin
[Treatment of status epilepticus in children with epilepsy].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2004;11(10):1217-24.
2003: Rima Nabbout; A Kozlovski; Elena Gennaro; Nadia Bahi-Buisson; Federico Zara; Catherine Chiron; A Bianchi; Alexis Brice; Eric LeGuern; Olivier Dulac
Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy.
Epilepsy research 2003;56(2-3):127-33.