Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations
Marzin, Pauline, Mignot, Cyril, Dorison, Nathalie, Dufour, Louis, Ville, Dorothée, Kaminska, Anna, Panagiotakaki, Eleni, Dienpendaele, Anne-Sophie, Penniello, Marie-José, Nougues, Marie-Christine, Keren, Boris, Depienne, Christel, Nava, Caroline, Milh, Mathieu, Villard, Laurent, Richelme, Christian, Rivier, Clotilde, Whalen, Sandra, Heron, Delphine, Lesca, Gaëtan, Doummar, Diane
Published in Brain & development (Tokyo. 1979) (01.10.2018)
Published in Brain & development (Tokyo. 1979) (01.10.2018)
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Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females
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, Whalen, Sandra, Mignot, Cyril, Baulac, Stéphanie, Lesca, Gaetan, Arzimanoglou, Alexis, LeGuern, Eric
Published in Human mutation (01.01.2011)
Published in Human mutation (01.01.2011)
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Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10
Goizet, Cyril, Boukhris, Amir, Mundwiller, Emeline, Tallaksen, Chantal, Forlani, Sylvie, Toutain, Annick, Carriere, Nathalie, Paquis, Véronique, Depienne, Christel, Durr, Alexandra, Stevanin, Giovanni, Brice, Alexis
Published in Human mutation (01.02.2009)
Published in Human mutation (01.02.2009)
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Journal Article
Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability
Heide, Solveig, MD, Keren, Boris, MD, PhD, Billette de Villemeur, Thierry, MD, PhD, Chantot-Bastaraud, Sandra, MD, Depienne, Christel, PhD, Nava, Caroline, MD, PhD, Mignot, Cyril, MD, PhD, Jacquette, Aurélia, MD, Fonteneau, Eric, Lejeune, Elodie, Mach, Corinne, Marey, Isabelle, MD, Whalen, Sandra, MD, Lacombe, Didier, MD, PhD, Naudion, Sophie, MD, Rooryck, Caroline, MD, PhD, Toutain, Annick, MD, PhD, Caignec, Cédric Le, MD, PhD, Haye, Damien, MD, Olivier-Faivre, Laurence, MD, PhD, Masurel-Paulet, Alice, MD, Thauvin-Robinet, Christel, MD, PhD, Lesne, Fabien, CRA, Faudet, Anne, CRA, Ville, Dorothée, MD, des Portes, Vincent, MD, PhD, Sanlaville, Damien, MD, PhD, Siffroi, Jean-Pierre, MD, PhD, Moutard, Marie-Laure, MD, Héron, Delphine, MD
Published in The Journal of pediatrics (01.06.2017)
Published in The Journal of pediatrics (01.06.2017)
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Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2–2q11.2
Henden, Lyndal, Freytag, Saskia, Afawi, Zaid, Baldassari, Sara, Berkovic, Samuel F., Bisulli, Francesca, Canafoglia, Laura, Casari, Giorgio, Crompton, Douglas Ewan, Depienne, Christel, Gecz, Jozef, Guerrini, Renzo, Helbig, Ingo, Hirsch, Edouard, Keren, Boris, Klein, Karl Martin, Labauge, Pierre, LeGuern, Eric, Licchetta, Laura, Mei, Davide, Nava, Caroline, Pippucci, Tommaso, Rudolf, Gabrielle, Scheffer, Ingrid Eileen, Striano, Pasquale, Tinuper, Paolo, Zara, Federico, Corbett, Mark, Bahlo, Melanie
Published in Human genetics (01.10.2016)
Published in Human genetics (01.10.2016)
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Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing
Calmels, Nadège, Greff, Géraldine, Obringer, Cathy, Kempf, Nadine, Gasnier, Claire, Tarabeux, Julien, Miguet, Marguerite, Baujat, Geneviève, Bessis, Didier, Bretones, Patricia, Cavau, Anne, Digeon, Béatrice, Doco-Fenzy, Martine, Doray, Bérénice, Feillet, François, Gardeazabal, Jesus, Gener, Blanca, Julia, Sophie, Llano-Rivas, Isabel, Mazur, Artur, Michot, Caroline, Renaldo-Robin, Florence, Rossi, Massimiliano, Sabouraud, Pascal, Keren, Boris, Depienne, Christel, Muller, Jean, Mandel, Jean-Louis, Laugel, Vincent
Published in Orphanet journal of rare diseases (22.03.2016)
Published in Orphanet journal of rare diseases (22.03.2016)
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Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders
Huguet, Guillaume, Nava, Caroline, Lemière, Nathalie, Patin, Etienne, Laval, Guillaume, Ey, Elodie, Brice, Alexis, Leboyer, Marion, Szepetowski, Pierre, Gillberg, Christopher, Depienne, Christel, Delorme, Richard, Bourgeron, Thomas
Published in PloS one (03.03.2014)
Published in PloS one (03.03.2014)
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Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in SLC18A3
Della Marina, Adela, Arlt, Annabelle, Schara-Schmidt, Ulrike, Depienne, Christel, Gangfuß, Andrea, Kölbel, Heike, Sickmann, Albert, Freier, Erik, Kohlschmidt, Nicolai, Hentschel, Andreas, Weis, Joachim, Czech, Artur, Grüneboom, Anika, Roos, Andreas
Published in Cells (Basel, Switzerland) (09.12.2021)
Published in Cells (Basel, Switzerland) (09.12.2021)
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Journal Article
Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome
Depienne, Christel, Ciura, Sorana, Trouillard, Oriane, Bouteiller, Delphine, Leitão, Elsa, Nava, Caroline, Keren, Boris, Marie, Yannick, Guegan, Justine, lani, Sylvie, Brice, Alexis, Anheim, Mathieu, Agid, Yves, Krack, Paul, Damier, Philippe, Viallet, François, Houeto, Jean-Luc, Durif, Franck, Vidailhet, Marie, Worbe, Yulia, Roze, Emmanuel, Kabashi, Edor, Hartmann, Andreas
Published in Tremor and other hyperkinetic movements (New York, N.Y.) (22.11.2019)
Published in Tremor and other hyperkinetic movements (New York, N.Y.) (22.11.2019)
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PAK3 mutations responsible for severe intellectual disability and callosal agenesis inhibit cell migration
Duarte, Kévin, Heide, Solveig, Poëa-Guyon, Sandrine, Rousseau, Véronique, Depienne, Christel, Rastetter, Agnès, Nava, Caroline, Attié-Bitach, Tania, Razavi, Ferechté, Martinovic, Jelena, Moutard, Marie Laure, Cherfils, Jacqueline, Mignot, Cyril, Héron, Delphine, Barnier, Jean-Vianney
Published in Neurobiology of disease (01.03.2020)
Published in Neurobiology of disease (01.03.2020)
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Journal Article
Kjellin Syndrome: Long-term Neuro-ophthalmologic Follow-up and Novel Mutations in the SPG11 Gene
Puech, Bernard, MD, Lacour, Arnaud, MD, Stevanin, Giovanni, PhD, Sautiere, Bruno G., MD, Devos, David, PhD, Depienne, Christel, PhD, Denis, Elodie, BS, Mundwiller, Emeline, BS, Ferriby, Didier, MD, Vermersch, Patrick, PhD, Defoort-Dhellemmes, Sabine, MD
Published in Ophthalmology (Rochester, Minn.) (01.03.2011)
Published in Ophthalmology (Rochester, Minn.) (01.03.2011)
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Journal Article
Dravet Syndrome in Lebanon: First Report on Cases with SCN1A Mutations
Meégarbaneé, André, Depienne, Christel, Gillart, Anne-Celine, Fawaz, Ali, Sabbagh, Sandra, Nava, Caroline, El-Houwayek, Eliane, Alame, Saada, Hasbini, Dana
Published in Case reports in medicine (01.01.2019)
Published in Case reports in medicine (01.01.2019)
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Journal Article
Individual perception of environmental factors that influence lower limbs spasticity in inherited spastic paraparesis
Lallemant-Dudek, Pauline, Parodi, Livia, Coarelli, Giulia, Heinzmann, Anna, Charles, Perrine, Ewenczyk, Claire, Fenu, Silvia, Monin, Marie-Lorraine, Corcia, Philippe, Depienne, Christel, Mochel, Fanny, Benard, Jean, Tezenas du Montcel, Sophie, Durr, Alexandra
Published in Annals of physical and rehabilitation medicine (01.09.2023)
Published in Annals of physical and rehabilitation medicine (01.09.2023)
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Congenital Mirror Movements Due to RAD51: Cosegregation with a Nonsense Mutation in a Norwegian Pedigree and Review of the Literature
Trouillard, Oriane, Koht, Jeanette, Gerstner, Thorsten, Moland, Siri, Depienne, Christel, Dusart, Isabelle, Méneret, Aurélie, Ruiz, Marta, Dubacq, Caroline, Roze, Emmanuel
Published in Tremor and other hyperkinetic movements (New York, N.Y.) (01.01.2016)
Published in Tremor and other hyperkinetic movements (New York, N.Y.) (01.01.2016)
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A novel locus for autosomal dominant uncomplicated hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3
HANEIN, Sylvain, DÜRR, Alexandra, BRICE, Alexis, STEVANIN, Giovanni, RIBAI, Pascale, FORLANI, Sylvie, LEUTENEGGER, Anne-Louise, NELSON, Isabelle, BABRON, Marie-Claude, ELLEUCH, Nizar, DEPIENNE, Christel, CHARON, Céline
Published in Human genetics (01.11.2007)
Published in Human genetics (01.11.2007)
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Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy
Chabrol, Elodie, Gourfinkel-An, Isabelle, Scheffer, Ingrid E, Picard, Fabienne, Couarch, Philippe, Berkovic, Samuel F, McMahon, Jacinta M, Bajaj, Nandita, Mota-Vieira, Luisa, Mota, Rui, Trouillard, Oriane, Depienne, Christel, Baulac, Michel, LeGuern, Eric, Baulac, Stéphanie
Published in Epilepsy research (01.08.2007)
Published in Epilepsy research (01.08.2007)
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