Works by Gourfinkel‐An, Isabelle

Results: 21

Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia.

Published in:

Epilepsia (Series 4), 2016, v. 57, n. 6, p. 994, doi. 10.1111/epi.13391

By:

Weckhuysen, Sarah;
Marsan, Elise;
Lambrecq, Virginie;
Marchal, Cécile;
Morin‐Brureau, Mélanie;
An‐Gourfinkel, Isabelle;
Baulac, Michel;
Fohlen, Martine;
Kallay Zetchi, Christine;
Seeck, Margitta;
Grange, Pierre;
Dermaut, Bart;
Meurs, Alfred;
Thomas, Pierre;
Chassoux, Francine;
Leguern, Eric;
Picard, Fabienne;
Baulac, Stéphanie

Publication type:

Article

STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.

Published in:

Epilepsia (Series 4), 2011, v. 52, n. 10, p. 1820, doi. 10.1111/j.1528-1167.2011.03163.x

By:

Mignot, Cyril;
Moutard, Marie-Laure;
Trouillard, Oriane;
Gourfinkel-An, Isabelle;
Jacquette, Aurélia;
Arveiler, Benoit;
Morice-Picard, Fanny;
Lacombe, Didier;
Chiron, Catherine;
Ville, Dorothée;
Charles, Perrine;
LeGuern, Eric;
Depienne, Christel;
Héron, Delphine

Publication type:

Article

Genes in infantile epileptic encephalopathies.

Published in:

Epilepsia (Series 4), 2010, v. 51, p. 69, doi. 10.1111/j.1528-1167.2010.02855.x

By:

Depienne, Christel;
Gourfinkel-An, Isabelle;
Baulac, Stéphanie;
LeGuern, Eric

Publication type:

Article

Familial form of typical childhood absence epilepsy in a consanguineous context.

Published in:

Epilepsia (Series 4), 2010, v. 51, n. 9, p. 1889, doi. 10.1111/j.1528-1167.2010.02649.x

By:

Abouda, Hanen;
Hizem, Yosr;
Gargouri, Amina;
Depienne, Christel;
Bouteiller, Delphine;
Riant, Florence;
Tournier-Lasserve, Elisabeth;
Gourfinkel-An, Isabelle;
LeGuern, Eric;
Gouider, Riadh

Publication type:

Article

First genetic evidence of GABA<sub>A</sub> receptor dysfunction in epilepsy: a mutation in the γ2-subunit gene.

Published in:

Nature Genetics, 2001, v. 28, n. 1, p. 46, doi. 10.1038/ng0501-46

By:

Baulac, Stéphanie;
Huberfeld, Gilles;
Gourfinkel-An, Isabelle;
Mitropoulou, Georgia;
Beranger, Alexandre;
Prud'homme, Jean-François;
Baulac, Michel;
Brice, Alexis;
Bruzzone, Roberto;
LeGuern, Eric

Publication type:

Article

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.

Published in:

Nature Genetics, 2000, v. 24, n. 4, p. 343, doi. 10.1038/74159

By:

Escayg, Andrew;
MacDonald, Bryan T.;
Meisler, Miriam H.;
Baulac, Stéphanie;
Huberfeld, Gilles;
An-Gourfinkel, Isabelle;
Brice, Alexis;
LeGuern, Eric;
Moulard, Bruno;
Chaigne, Denys;
Buresi, Catherine;
Malafosse, Alain

Publication type:

Article

Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females.

Published in:

PLoS Genetics, 2009, v. 5, n. 2, p. 1, doi. 10.1371/journal.pgen.1000381

By:

Depienne, Christel;
Bouteiller, Delphine;
Keren, Boris;
Cheuret, Emmanuel;
Poirier, Karine;
Trouillard, Oriane;
Benyahia, Baya;
Quelin, Chloé;
Carpentier, Wassila;
Julia, Sophie;
Afenjar, Alexandra;
Gautier, Agnès;
Rivier, François;
Meyer, Sophie;
Berquin, Patrick;
Hélias, Marie;
Py, Isabelle;
Rivera, Serge;
Bahi-Buisson, Nadia;
Gourfinkel-An, Isabelle

Publication type:

Article

Malignant catatonia due to anti-NMDA-receptor encephalitis in a 17-year-old girl: case report.

Published in:

2011

By:

Consoli, Angèle;
Ronen, Karine;
An-Gourfinkel, Isabelle;
Barbeau, Martine;
Marra, Donata;
Costedoat-Chalumeau, Nathalie;
Montefiore, Delphine;
Maksud, Philippe;
Bonnot, Olivier;
Didelot, Adrien;
Amoura, Zahir;
Vidailhet, Marie;
Cohen, David

Publication type:

Case Study

A review of the natural history of Sturge–Weber syndrome through adulthood.

Published in:

Journal of Neurology, 2022, v. 269, n. 9, p. 4872, doi. 10.1007/s00415-022-11132-9

By:

Vellieux, Geoffroy;
Frazzini, Valerio;
Pichit, Phintip;
Dupont, Sophie;
Gourfinkel-An, Isabelle;
Navarro, Vincent

Publication type:

Article

Understanding Lennox-Gastaut syndrome: insights from focal epilepsy patients with Lennox-Gastaut features.

Published in:

Journal of Neurology, 2017, v. 264, n. 7, p. 1388, doi. 10.1007/s00415-017-8535-7

By:

Dupont, Sophie;
Banica-Wolters, Raluca;
An-Gourfinkel, Isabelle;
Lambrecq, Virginie;
Navarro, Vincent;
Adam, Claude;
Nguyen-Michel, Vi-Huong

Publication type:

Article

Spinocerebellar ataxia type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 5, p. 913, doi. 10.1093/hmg/7.5.913

By:

Holmberg, Monica;
Duyckaerts, Charles;
Dürr, Alexandra;
Cancel, Géraldine;
Gourfinkel‐An, Isabelle;
Damier, Philippe;
Faucheux, Baptiste;
Trottier, Yvon;
Hirsch, Etienne C.;
Agid, Yves;
Brice, Alexis

Publication type:

Article

Screening for Proteins with Polyglutamine Expansions in Autosomal Dominant Cerebellar Ataxias.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 12, p. 1887, doi. 10.1093/hmg/5.12.1887

By:

Stevanin, Giovanni;
Trottier, Yvon;
Cancel, Géraldine;
Dürr, Alexandra;
David, Gilles;
Didierjean, Olivier;
Bürk, Katrin;
Imbert, Georges;
Saudou, Frederic;
Abada-Bendib, Myriem;
Gourfinkel-An, Isabelle;
Benomar, Ali;
Abbas, Nacer;
Klockgether, Thomas;
Grid, Djamel;
Agid, Yves;
Mandel, Jean-Louis;
Brice, Alexis

Publication type:

Article

Differential distribution of the normal and mutated forms of huntingtin in the human brain.

Published in:

1997

By:

Gourfinkel-An, Isabelle;
Cancel, Géraldine;
Trottier, Yvon;
Devys, Didier;
Tora, Laszlo;
Lutz, Yves;
Imbert, Georges;
Saudou, Frédéric;
Stevanin, Giovanni;
Agid, Yves;
Brice, Alexis;
Mandel, Jean-Louis;
Hirsch, Etienne C.;
Gourfinkel-An, I;
Cancel, G;
Trottier, Y;
Devys, D;
Tora, L;
Lutz, Y;
Imbert, G

Publication type:

journal article

Does epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk?

Published in:

Molecular Autism, 2013, v. 4, n. 1, p. 2, doi. 10.1186/2040-2392-4-47

By:

Amiet, Claire;
Gourfinkel-An, Isabelle;
Laurent, Claudine;
Bodeau, Nicolas;
Génin, Bérengère;
Leguern, Eric;
Tordjman, Sylvie;
Cohen, David

Publication type:

Article

Risk Factors of Acute Behavioral Regression in Psychiatrically Hospitalized Adolescents with Autism.

Published in:

Journal of the Canadian Academy of Child & Adolescent Psychiatry, 2010, v. 19, n. 2, p. 100

By:

Périsse, Didier;
Amiet, Claire;
Consoli, Angèle;
Thorel, Marie-Vincente;
Gourfinkel-An, Isabelle;
Bodeau, Nicolas;
Guinchat, Vincent;
Barthélémy, Catherine;
Cohen, David

Publication type:

Article

Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy.

Published in:

Human Mutation, 2009, v. 30, n. 3, p. 397, doi. 10.1002/humu.20876

By:

Saint-Martin, Cécile;
Gauvain, Grégory;
Teodorescu, Georgeta;
Gourfinkel-An, Isabelle;
Fedirko, Estelle;
Weber, Yvonne G.;
Maljevic, Snezana;
Ernst, Jan-Peter;
Garcia-Olivares, Jennie;
Fahlke, Christoph;
Nabbout, Rima;
LeGuern, Eric;
Lerche, Holger;
Poncer, Jean Christophe;
Depienne, Christel

Publication type:

Article

Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy.

Published in:

Human Mutation, 2006, v. 27, n. 4, p. 389, doi. 10.1002/humu.9419

By:

Depienne, Christel;
Arzimanoglou, Alexis;
Trouillard, Oriane;
Fedirko, Estelle;
Baulac, Stéphanie;
Saint-Martin, Cécile;
Ruberg, Merle;
Dravet, Charlotte;
Nabbout, Rima;
Baulac, Michel;
Gourfinkel-An, Isabelle;
Leguern, Eric

Publication type:

Article

Somatic mosaicism of the CAG repeat expansion in spinocerebellar ataxia type 3/Machado-Joseph disease.

Published in:

Human Mutation, 1998, v. 11, n. 1, p. 23, doi. 10.1002/(SICI)1098-1004(1998)11:1<23::AID-HUMU4>3.0.CO;2-M

By:

Cancel, Géraldine;
Gourfinkel-An, Isabelle;
Stevanin, Giovanni;
Didierjean, Olivier;
Abbas, Nacer;
Hirsch, Etienne;
Agid, Yves;
Brice, Alexis

Publication type:

Article

Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism.

Published in:

Journal of Molecular Medicine, 2011, v. 89, n. 9, p. 915, doi. 10.1007/s00109-011-0758-y

By:

Couarch, Philippe;
Vernia, Santiago;
Gourfinkel-An, Isabelle;
Lesca, Gaëtan;
Gataullina, Svetlana;
Fedirko, Estelle;
Trouillard, Oriane;
Depienne, Christel;
Dulac, Olivier;
Steschenko, Dominique;
Leguern, Eric;
Sanz, Pascual;
Baulac, Stéphanie

Publication type:

Article

Cannabidiol Treatment for Adult Patients with Drug‐Resistant Epilepsies: A Real‐World Study in a Tertiary Center.

Published in:

Brain & Behavior, 2024, v. 14, n. 11, p. 1, doi. 10.1002/brb3.70122

By:

Calonge, Quentin;
Besnard, Aurore;
Bailly, Laurent;
Damiano, Maria;
Pichit, Phintip;
Dupont, Sophie;
Gourfinkel‐An, Isabelle;
Navarro, Vincent

Publication type:

Article

Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.

Published in:

Human Mutation, 2011, v. 32, n. 1, p. E1959, doi. 10.1002/humu.21373

By:

Depienne, Christel;
Trouillard, Oriane;
Bouteiller, Delphine;
Gourfinkel-An, Isabelle;
Poirier, Karine;
Rivier, François;
Berquin, Patrick;
Nabbout, Rima;
Chaigne, Denys;
Steschenko, Dominique;
Gautier, Agnès;
Hoffman-Zacharska, Dorota;
Lannuzel, Annie;
Lackmy-Port-Lis, Marilyn;
Maurey, Hélène;
Dusser, Anne;
Bru, Marie;
Gilbert-Dussardier, Brigitte;
Roubertie, Agathe;
Kaminska, Anna

Publication type:

Article