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3. Azithromycin promotes relapse by disrupting immune and metabolic networks after allogeneic stem cell transplantation

Author

Vallet, Nicolas, Le Grand, Sophie, Bondeelle, Louise, Hoareau, Bénédicte, Corneau, Aurélien, Bouteiller, Delphine, Tournier, Simon, Derivry, Lucille, Bohineust, Armelle, Tourret, Marie, Gibert, Delphine, Mayeur, Ethan, Itzykson, Raphael, Pacchiardi, Kim, Ingram, Brian, Cassonnet, Stéphane, Lepage, Patricia, Peffault de Latour, Régis, Socié, Gérard, Bergeron, Anne, and Michonneau, David

Published
2022
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8. Validation of a Salivary miRNA Signature of Endometriosis — Interim Data

Author

Bendifallah, Sofiane, primary, Dabi, Yohann, additional, Suisse, Stéphane, additional, Delbos, Léa, additional, Spiers, Andrew, additional, Poilblanc, Mathieu, additional, Golfier, Francois, additional, Jornea, Ludmila, additional, Bouteiller, Delphine, additional, Fernandez, Hervé, additional, Madar, Alexandra, additional, Petit, Erick, additional, Perotte, Frédérique, additional, Fauvet, Raffaèle, additional, Benjoar, Michael, additional, Akladios, Cherif, additional, Lavoué, Vincent, additional, Darnaud, Thomas, additional, Merlot, Benjamin, additional, Roman, Horace, additional, Touboul, Cyril, additional, and Descamps, Philippe, additional

Published
2023
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9. C9ORF72 knockdown triggers FTD-like symptoms and cell pathology in mice

Author

Lopez-Herdoiza, Maria-Belen, primary, Bauché, Stephanie, additional, Wilmet, Baptiste, additional, Le Duigou, Caroline, additional, Roussel, Delphine, additional, Frah, Magali, additional, Béal, Jonas, additional, Devely, Gabin, additional, Boluda, Susana, additional, Frick, Petra, additional, Bouteiller, Delphine, additional, Dussaud, Sébastien, additional, Guillabert, Pierre, additional, Dalle, Carine, additional, Dumont, Magali, additional, Camuzat, Agnes, additional, Saracino, Dario, additional, Barbier, Mathieu, additional, Bruneteau, Gaelle, additional, Ravassard, Phillippe, additional, Neumann, Manuela, additional, Nicole, Sophie, additional, Le Ber, Isabelle, additional, Brice, Alexis, additional, and Latouche, Morwena, additional

Published
2023
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10. Endometriosis-associated infertility diagnosis based on saliva microRNA signatures

Author

Dabi, Yohann, primary, Suisse, Stéphane, additional, Puchar, Anne, additional, Delbos, Léa, additional, Poilblanc, Mathieu, additional, Descamps, Philippe, additional, Haury, Julie, additional, Golfier, Francois, additional, Jornea, Ludmila, additional, Bouteiller, Delphine, additional, Touboul, Cyril, additional, Daraï, Emile, additional, and Bendifallah, Sofiane, additional

Published
2023
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11. Correction: Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome

Author

Depienne, Christel, primary, Ciura, Sorana, additional, Trouillard, Oriane, additional, Bouteiller, Delphine, additional, Leitão, Elsa, additional, Nava, Caroline, additional, Keren, Boris, additional, Marie, Yannick, additional, Guegan, Justine, additional, Forlani, Sylvie, additional, Brice, Alexis, additional, Anheim, Mathieu, additional, Agid, Yves, additional, Krack, Paul, additional, Damier, Philippe, additional, Viallet, François, additional, Houeto, Jean-Luc, additional, Durif, Franck, additional, Vidailhet, Marie, additional, Worbe, Yulia, additional, Roze, Emmanuel, additional, Kabashi, Edor, additional, and Hartmann, Andreas, additional

Published
2023
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12. Correction: Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome

Author

Depienne, Christel, Ciura, Sorana, Trouillard, Oriane, Bouteiller, Delphine, Leitão, Elsa, Nava, Caroline, Keren, Boris, Marie, Yannick, Guegan, Justine, Forlani, 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, and Hartmann, Andreas

Subjects
610 Medicine & health
Abstract

[This corrects the article DOI: 10.5334/tohm.464.].

Published
2023
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14. Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders

Author

Nava, Caroline, Rupp, Johanna, Boissel, Jean-Paul, Mignot, Cyril, Rastetter, Agnès, Amiet, Claire, Jacquette, Aurélia, Dupuits, Céline, Bouteiller, Delphine, Keren, Boris, Ruberg, Merle, Faudet, Anne, Doummar, Diane, Philippe, Anne, Périsse, Didier, Laurent, Claudine, Lebrun, Nicolas, Guillemot, Vincent, Chelly, Jamel, Cohen, David, Héron, Delphine, Brice, Alexis, Closs, Ellen I., and Depienne, Christel

Published
2015
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15. Endometriosis Associated-miRNome Analysis of Blood Samples: A Prospective Study

Author

Bendifallah, Sofiane, primary, Dabi, Yohann, additional, Suisse, Stéphane, additional, Delbos, Léa, additional, Poilblanc, Mathieu, additional, Descamps, Philippe, additional, Golfier, Francois, additional, Jornea, Ludmila, additional, Bouteiller, Delphine, additional, Touboul, Cyril, additional, Puchar, Anne, additional, and Daraï, Emile, additional

Published
2022
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16. Salivary MicroRNA Signature for Diagnosis of Endometriosis

Author

Bendifallah, Sofiane, primary, Suisse, Stéphane, additional, Puchar, Anne, additional, Delbos, Léa, additional, Poilblanc, Mathieu, additional, Descamps, Philippe, additional, Golfier, Francois, additional, Jornea, Ludmila, additional, Bouteiller, Delphine, additional, Touboul, Cyril, additional, Dabi, Yohann, additional, and Daraï, Emile, additional

Published
2022
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19. Single-cell RNA sequencing of blood antigen-presenting cells in severe Covid-19 reveals multi-process defects in antiviral immunity

Author

Saichi, Melissa, primary, Ladjemi, Maha Zohra, additional, Korniotis, Sarantis, additional, Rousseau, Christophe, additional, Ait-Hamou, Zakaria, additional, Massenet, Lucile, additional, Amblard, Elise, additional, Noel, Floriane, additional, Marie, Yannick, additional, Bouteiller, Delphine, additional, Medvedovic, Jasna, additional, Pène, Frédéric, additional, and Soumelis, Vassili, additional

Published
2021
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20. Mutations and Deletions in PCDH19 Account for Various Familial or Isolated Epilepsies in Females

Author

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, and LeGuern, Eric

Published
2011
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21. Single cell RNA sequencing of blood antigen-presenting cells in severe Covid-19 reveals multi-process defects in antiviral immunity

Author

Saichi, Melissa, primary, Ladjemi, Maha Zohra, additional, Korniotis, Sarantis, additional, Rousseau, Christophe, additional, Ait-Hamou, Zakaria, additional, Massenet, Lucile, additional, Amblard, Elise, additional, Noel, Floriane, additional, Marie, Yannick, additional, Bouteiller, Delphine, additional, Medvedovic, Jasna, additional, Pène, Frédéric, additional, and Soumelis, Vassili, additional

Published
2020
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23. Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

Author

Depienne, Christel, Trouillard, Oriane, Gourfinkel-An, Isabelle, Saint-Martin, Cécile, Bouteiller, Delphine, Graber, Denis, Barthez-Carpentier, Marie-Anne, Gautier, Agnès, Villeneuve, Nathalie, Dravet, Charlotte, Livet, Marie-Odile, Rivier-Ringenbach, Clothilde, Adam, Claude, Dupont, Sophie, Baulac, Stéphanie, Héron, Delphine, Nabbout, Rima, and LeGuern, Eric

Published
2010
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25. Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia

Author

Clot, Fabienne, Grabli, David, Cazeneuve, Cécile, Roze, Emmanuel, Castelnau, Pierre, Chabrol, Brigitte, Landrieu, Pierre, Nguyen, Karine, Ponsot, Gérard, Abada, Myriem, Doummar, Diane, Damier, Philippe, Gil, Roger, Thobois, Stéphane, Ward, Alana J., Hutchinson, Michael, Toutain, Annick, Picard, Fabienne, Camuzat, Agnès, Fedirko, Estelle, Sân, Chankannira, Bouteiller, Delphine, LeGuern, Eric, Durr, Alexandra, Vidailhet, Marie, and Brice, Alexis

Published
2009

26. Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

Author

Florian, Rahel T., Kraft, Florian, Leitão, Elsa, Kaya, Sabine, Klebe, Stephan, Magnin, Eloi, van Rootselaar, Anne-Fleur, Buratti, Julien, Kühnel, Theresa, Schröder, Christopher, Giesselmann, Sebastian, Tschernoster, Nikolai, Altmueller, Janine, Lamiral, Anaide, Keren, Boris, Nava, Caroline, Bouteiller, Delphine, Forlani, Sylvie, Jornea, Ludmila, Kubica, Regina, Ye, Tao, Plassard, Damien, Jost, Bernard, Meyer, Vincent, Deleuze, Jean-François, Delpu, Yannick, Avarello, Mario D. M., Vijfhuizen, Lisanne S., Rudolf, Gabrielle, Hirsch, Edouard, Kroes, Thessa, Reif, Philipp S., Rosenow, Felix, Ganos, Christos, Vidailhet, Marie, Thivard, Lionel, Mathieu, Alexandre, Bourgeron, Thomas, Kurth, Ingo, Rafehi, Haloom, Steenpaß, Laura, Horsthemke, Bernhard, LeGuern, Eric, Klein, Karl Martin, Labauge, Pierre, Bennett, Mark F., Bahlo, Melanie, Gecz, Jozef, Corbett, Mark A., Tijssen, Marina A. J., van den Maagdenberg, Arn M. J. M., and Depienne, Christel

Subjects
Medizinische Fakultät » Universitätsklinikum Essen » Institut für Humangenetik, Medizinische Fakultät » Universitätsklinikum Essen » Klinik für Neurologie, ddc:610
Abstract

Familial Adult Myoclonic Epilepsy (FAME) is a genetically heterogeneous disorder characterized by cortical tremor and seizures. Intronic TTTTA/TTTCA repeat expansions in SAMD12 (FAME1) are the main cause of FAME in Asia. Using genome sequencing and repeat-primed PCR, we identify another site of this repeat expansion, in MARCH6 (FAME3) in four European families. Analysis of single DNA molecules with nanopore sequencing and molecular combing show that expansions range from 3.3 to 14 kb on average. However, we observe considerable variability in expansion length and structure, supporting the existence of multiple expansion configurations in blood cells and fibroblasts of the same individual. Moreover, the largest expansions are associated with micro-rearrangements occurring near the expansion in 20% of cells. This study provides further evidence that FAME is caused by intronic TTTTA/TTTCA expansions in distinct genes and reveals that expansions exhibit an unexpectedly high somatic instability that can ultimately result in genomic rearrangements.

Published
2019

27. Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

Author

Florian, Rahel T, Kraft, Florian, Leitão, Elsa, Kaya, Sabine, Klebe, Stephan, Magnin, Eloi, van Rootselaar, Anne-Fleur, Buratti, Julien, Kühnel, Theresa, Schröder, Christopher, Giesselmann, Sebastian, Tschernoster, Nikolai, Altmueller, Janine, Lamiral, Anaide, Keren, Boris, Nava, Caroline, Bouteiller, Delphine, Forlani, Sylvie, Jornea, Ludmila, Kubica, Regina, Ye, Tao, Plassard, Damien, Jost, Bernard, Meyer, Vincent, Deleuze, Jean-François, Delpu, Yannick, Avarello, Mario D M, Vijfhuizen, Lisanne S, Rudolf, Gabrielle, Hirsch, Edouard, Kroes, Thessa, Reif, Philipp S, Rosenow, Felix, Ganos, Christos, Vidailhet, Marie, Thivard, Lionel, Mathieu, Alexandre, Bourgeron, Thomas, Kurth, Ingo, Rafehi, Haloom, Steenpass, Laura, Horsthemke, Bernhard, LeGuern, Eric, Klein, Karl Martin, Labauge, Pierre, Bennett, Mark F, Bahlo, Melanie, Gecz, Jozef, Corbett, Mark A, Tijssen, Marina A J, and Movement Disorder (MD)

Subjects
GENOME, CORTICAL TREMOR, SEQ, EXCLUSION, LOCUS, LINKAGE, REPEATS, DNA
Abstract

Familial Adult Myoclonic Epilepsy (FAME) is a genetically heterogeneous disorder characterized by cortical tremor and seizures. Intronic TTTTA/TTTCA repeat expansions in SAMD12 (FAME1) are the main cause of FAME in Asia. Using genome sequencing and repeat-primed PCR, we identify another site of this repeat expansion, in MARCH6 (FAME3) in four European families. Analysis of single DNA molecules with nanopore sequencing and molecular combing show that expansions range from 3.3 to 14 kb on average. However, we observe considerable variability in expansion length and structure, supporting the existence of multiple expansion configurations in blood cells and fibroblasts of the same individual. Moreover, the largest expansions are associated with micro-rearrangements occurring near the expansion in 20% of cells. This study provides further evidence that FAME is caused by intronic TTTTA/TTTCA expansions in distinct genes and reveals that expansions exhibit an unexpectedly high somatic instability that can ultimately result in genomic rearrangements.

Published
2019

28. Advances in genotyping microsatellite markers through sequencing and consequences of scoring methods for Ceratonia siliqua (Leguminosae)

Author

Haguenauer, Anne, Juin, Marianick, Mirleau, Fatma, Bouteiller, Delphine, Boudagher-Kharrat, Magda, Ouahmane, Lahcen, La Malfa, Stefano, Medail, Frédéric, Sanguin, Hervé, Feliner, Gonzalo Nieto, Baumel, Alex, and Viruel, Juan

Subjects
carob tree, genetic diversity, homoplasy, MicNeSs, next-generation sequencing, simple sequence repeat (SSR), food and beverages
Abstract

Premise of the Study Simple sequence repeat (SSR) or microsatellite markers have been used in a broad range of studies mostly scoring alleles on the basis of amplicon size as a proxy for the number of repeat units of an SSR motif. However, additional sources of variation within the SSR or in the flanking regions have largely remained undetected. Methods In this study, we implemented a next-generation sequencing-based genotyping approach in a newly characterized set of 18 nuclear SSR markers for the carob tree, Ceratonia siliqua. Our aim was to evaluate the effect of three different methods of scoring molecular variation present within microsatellite markers on the genetic diversity and structure results. Results The analysis of the sequences of 77 multilocus genotypes from four populations revealed SSR variation and additional sources of polymorphism in 87% of the loci analyzed (42 single-nucleotide polymorphisms and five insertion/deletion polymorphisms), as well as divergent paralog copies in two loci. Ignoring sequence variation under standard amplicon size genotyping resulted in incorrect identification of 69% of the alleles, with important effects on the genetic diversity and structure estimates. Discussion Next-generation sequencing allows the detection and scoring of SSRs, single-nucleotide polymorphisms, and insertion/deletion polymorphisms to increase the resolution of population genetic studies.

Published
2018

29. Advances in genotyping microsatellite markers through sequencing and consequences of scoring methods for Ceratonia siliqua (Leguminosae)

Author

Viruel, Juan, Haguenauer, Anne, Juin, Marianick, Mirleau, Fatma, Bouteiller, Delphine, Boudagher‐Kharrat, Magda, Ouahmane, Lahcen, La Malfa, Stefano, Medail, Frederic, Sanguin, Hervé, Nieto Feliner, Gonzalo, Baumel, Alex, Agence Nationale de la Recherche (France), Institut méditerranéen de biodiversité et d'écologie marine et continentale (IMBE), Avignon Université (AU)-Aix Marseille Université (AMU)-Institut de recherche pour le développement [IRD] : UMR237-Centre National de la Recherche Scientifique (CNRS), Neurologie et thérapeutique expérimentale, Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR70-Université Pierre et Marie Curie - Paris 6 (UPMC), Université Cadi Ayyad [Marrakech] (UCA), Università degli studi di Catania [Catania], Laboratoire d'Ecologie Microbienne - UMR 5557 (LEM), Centre National de la Recherche Scientifique (CNRS)-Ecole Nationale Vétérinaire de Lyon (ENVL)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Recherche Agronomique (INRA)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS), ANR-14-CE02-0016,DYNAMIC,Décryptage des réseaux symbiotiques au sein des agro-écosystèmes méditerranéens à caroubier(2014), Laboratoire des symbioses tropicales et méditerranéennes (UMR LSTM), Institut national d’études supérieures agronomiques de Montpellier (Montpellier SupAgro), Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Université de Montpellier (UM)-Centre de Coopération Internationale en Recherche Agronomique pour le Développement (Cirad)-Institut de Recherche pour le Développement (IRD), French National Research Agency [ANR-14-CE02-0016], DYNAMIC [ANR-14-CE02-0016], Marie Skodowska-Curie Individual Fellowship [704464-YAMNOMICS-MSCA-IF-EF-ST], Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR70-Institut National de la Santé et de la Recherche Médicale (INSERM), Università degli studi di Catania = University of Catania (Unict), and Centre de Coopération Internationale en Recherche Agronomique pour le Développement (Cirad)-Université Montpellier 1 (UM1)-Institut de Recherche pour le Développement (IRD)-Institut National de la Recherche Agronomique (INRA)-Université Montpellier 2 - Sciences et Techniques (UM2)-Université de Montpellier (UM)-Institut national d’études supérieures agronomiques de Montpellier (Montpellier SupAgro)

Subjects
Application Article, [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.GEN.GPO]Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE], Ecology, MicNeSs, Evolution, [SDV.BID.EVO]Life Sciences [q-bio]/Biodiversity/Populations and Evolution [q-bio.PE], food and beverages, homoplasy, Plant Science, genetic diversity, [SDV.BV.BOT]Life Sciences [q-bio]/Vegetal Biology/Botanics, Simple sequence repeat (SSR), next-generation sequenc-ing, Genetic diversity, F30 - Génétique et amélioration des plantes, Carob tree, Behavior and Systematics, simple sequence repeat (SSR), carob tree, next-generation sequencing, Ecology, Evolution, Behavior and Systematics, Application Articles, Homoplasy, Next‐generation sequencing
Abstract

Premise of the Study: Simple sequence repeat (SSR) or microsatellite markers have been used in a broad range of studies mostly scoring alleles on the basis of amplicon size as a proxy for the number of repeat units of an SSR motif. However, additional sources of variation within the SSR or in the flanking regions have largely remained undetected. Methods: In this study, we implemented a next-generation sequencing–based genotyping approach in a newly characterized set of 18 nuclear SSR markers for the carob tree, Ceratonia siliqua. Our aim was to evaluate the effect of three different methods of scoring molecular variation present within microsatellite markers on the genetic diversity and structure results. Results: The analysis of the sequences of 77 multilocus genotypes from four populations revealed SSR variation and additional sources of polymorphism in 87% of the loci analyzed (42 single-nucleotide polymorphisms and five insertion/deletion polymorphisms), as well as divergent paralog copies in two loci. Ignoring sequence variation under standard amplicon size genotyping resulted in incorrect identification of 69% of the alleles, with important effects on the genetic diversity and structure estimates. Discussion: Next-generation sequencing allows the detection and scoring of SSRs, single-nucleotide polymorphisms, and insertion/deletion polymorphisms to increase the resolution of population genetic studies., This research is part of the DYNAMIC project funded by the French National Research Agency (ANR‐14‐CE02‐0016). J.V. benefited from a postdoctoral fellowship funded by DYNAMIC (ANR‐14‐CE02‐0016) and a Marie Skłodowska‐Curie Individual Fellowship (704464‐YAMNOMICS‐MSCA‐IF‐EF‐ST).

Published
2018
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30. Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome

Author

Depienne, Christel, primary, Ciura, Sorana, additional, Trouillard, Oriane, additional, Bouteiller, Delphine, additional, Leitão, Elsa, additional, Nava, Caroline, additional, Keren, Boris, additional, Marie, Yannick, additional, Guegan, Justine, additional, Forlani, Sylvie, additional, Brice, Alexis, additional, Anheim, Mathieu, additional, Agid, Yves, additional, Krack, Paul, additional, Damier, Philippe, additional, Viallet, François, additional, Houeto, Jean-Luc, additional, Durif, Franck, additional, Vidailhet, Marie, additional, Worbe, Yulia, additional, Roze, Emmanuel, additional, Kabashi, Edor, additional, and Hartmann, Andreas, additional

Published
2019
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31. Advances in genotyping microsatellite markers through sequencing and consequences of scoring methods for Ceratonia siliqua (Leguminosae)

Author

Agence Nationale de la Recherche (France), Viruel, Juan, Haguenauer, Anne, Juin, Marianick, Mirleau, Fatma, Bouteiller, Delphine, Boudagher-Kharrat, Magda, Ouahmane, Lahcen, La Malfa, Stefano, Médail, Frédéric, Sanguin, Hervé, Nieto Feliner, Gonzalo, Baumel, Alex, Agence Nationale de la Recherche (France), Viruel, Juan, Haguenauer, Anne, Juin, Marianick, Mirleau, Fatma, Bouteiller, Delphine, Boudagher-Kharrat, Magda, Ouahmane, Lahcen, La Malfa, Stefano, Médail, Frédéric, Sanguin, Hervé, Nieto Feliner, Gonzalo, and Baumel, Alex

Abstract

Premise of the Study: Simple sequence repeat (SSR) or microsatellite markers have been used in a broad range of studies mostly scoring alleles on the basis of amplicon size as a proxy for the number of repeat units of an SSR motif. However, additional sources of variation within the SSR or in the flanking regions have largely remained undetected. Methods: In this study, we implemented a next-generation sequencing–based genotyping approach in a newly characterized set of 18 nuclear SSR markers for the carob tree, Ceratonia siliqua. Our aim was to evaluate the effect of three different methods of scoring molecular variation present within microsatellite markers on the genetic diversity and structure results. Results: The analysis of the sequences of 77 multilocus genotypes from four populations revealed SSR variation and additional sources of polymorphism in 87% of the loci analyzed (42 single-nucleotide polymorphisms and five insertion/deletion polymorphisms), as well as divergent paralog copies in two loci. Ignoring sequence variation under standard amplicon size genotyping resulted in incorrect identification of 69% of the alleles, with important effects on the genetic diversity and structure estimates. Discussion: Next-generation sequencing allows the detection and scoring of SSRs, single-nucleotide polymorphisms, and insertion/deletion polymorphisms to increase the resolution of population genetic studies.

Published
2018

32. Advances in genotyping microsatellite markers through sequencing and consequences of scoring methods forCeratonia siliqua(Leguminosae)

Author

Viruel, Juan, primary, Haguenauer, Anne, additional, Juin, Marianick, additional, Mirleau, Fatma, additional, Bouteiller, Delphine, additional, Boudagher‐Kharrat, Magda, additional, Ouahmane, Lahcen, additional, La Malfa, Stefano, additional, Médail, Frédéric, additional, Sanguin, Hervé, additional, Nieto Feliner, Gonzalo, additional, and Baumel, Alex, additional

Published
2018
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33. Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia

Author

Clot, Fabienne, Grabli, David, Cazeneuve, Cécile, Roze, Emmanuel, Castelnau, Pierre, Chabrol, Brigitte, Landrieu, Pierre, Nguyen, Karine, Ponsot, Gérard, Abada, Myriem, Doummar, Diane, Damier, Philippe, Gil, Roger, Thobois, Stéphane, Ward, Alana J., Hutchinson, Michael, Toutain, Annick, Picard, Fabienne, Camuzat, Agnès, Fedirko, Estelle, Sân, Chankannira, Bouteiller, Delphine, LeGuern, Eric, Durr, Alexandra, Vidailhet, Marie, Brice, Alexis, Clot, Fabienne, Grabli, David, Cazeneuve, Cécile, Roze, Emmanuel, Castelnau, Pierre, Chabrol, Brigitte, Landrieu, Pierre, Nguyen, Karine, Ponsot, Gérard, Abada, Myriem, Doummar, Diane, Damier, Philippe, Gil, Roger, Thobois, Stéphane, Ward, Alana J., Hutchinson, Michael, Toutain, Annick, Picard, Fabienne, Camuzat, Agnès, Fedirko, Estelle, Sân, Chankannira, Bouteiller, Delphine, LeGuern, Eric, Durr, Alexandra, Vidailhet, Marie, and Brice, Alexis

Abstract

Dopa-responsive dystonia is a childhood-onset dystonic disorder, characterized by a dramatic response to low dose of l-Dopa. Dopa-responsive dystonia is mostly caused by autosomal dominant mutations in the GCH1 gene (GTP cyclohydrolase1) and more rarely by autosomal recessive mutations in the TH (tyrosine hydroxylase) or SPR (sepiapterin reductase) genes. In addition, mutations in the PARK2 gene (parkin) which causes autosomal recessive juvenile parkinsonism may present as Dopa-responsive dystonia. In order to evaluate the relative frequency of the mutations in these genes, but also in the genes involved in the biosynthesis and recycling of BH4, and to evaluate the associated clinical spectrum, we have studied a large series of index patients (n = 64) with Dopa-responsive dystonia, in whom dystonia improved by at least 50% after l-Dopa treatment. Fifty seven of these patients were classified as pure Dopa-responsive dystonia and seven as Dopa-responsive dystonia-plus syndromes. All patients were screened for point mutations and large rearrangements in the GCH1 gene, followed by sequencing of the TH and SPR genes, then PTS (pyruvoyl tetrahydropterin synthase), PCBD (pterin-4a-carbinolamine dehydratase), QDPR (dihydropteridin reductase) and PARK2 (parkin) genes. We identified 34 different heterozygous point mutations in 40 patients, and six different large deletions in seven patients in the GCH1 gene. Except for one patient with mental retardation and a large deletion of 2.3 Mb encompassing 10 genes, all patients had stereotyped clinical features, characterized by pure Dopa-responsive dystonia with onset in the lower limbs and an excellent response to low doses of l-Dopa. Dystonia started in the first decade of life in 40 patients (85%) and before the age of 1 year in one patient (2.2%). Three of the 17 negative GCH1 patients had mutations in the TH gene, two in the SPR gene and one in the PARK2 gene. No mutations in the three genes involved in the biosynthesis and rec

Published
2017

34. De novo mutations in HCN1 cause early infantile epileptic encephalopathy

Author

Nava, Caroline, Dalle, Carine, Rastetter, Agnès, Striano, Pasquale, de Kovel, Carolien G F, Nabbout, Rima, Cancès, Claude, Ville, Dorothée, Brilstra, Eva H, Gobbi, Giuseppe, Raffo, Emmanuel, Bouteiller, Delphine, Marie, Yannick, Trouillard, Oriane, Robbiano, Angela, Keren, Boris, Agher, Dahbia, Roze, Emmanuel, Lesage, Suzanne, Nicolas, Aude, Brice, Alexis, Baulac, Michel, Vogt, Cornelia, El Hajj, Nady, Schneider, Eberhard, Suls, Arvid, Weckhuysen, Sarah, Gormley, Padhraig, Lehesjoki, Anna-Elina, De Jonghe, Peter, Helbig, Ingo, Baulac, Stéphanie, Zara, Federico, Koeleman, Bobby P C, Haaf, Thomas, LeGuern, Eric, Depienne, Christel, Møller, Rikke Steensbjerre, Service de Génétique et Cytogénétique [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [APHP]-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [APHP]-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Giannina Gaslini Institute, University Medical Center [Utrecht], Service de neurologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP], Epilepsies de l'Enfant et Plasticité Cérébrale (U1129), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Neurologie Pédiatrique [Toulouse], CHU Toulouse [Toulouse], Service de Neurologie Pédiatrique [CHU Lyon], Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), IRCCS Istituto delle Scienze Neurologiche di Bologna [Bologna, Italy], Ospedale Bellaria [Bologna, Italy], Développement, Adaptation et Handicap. Régulations cardio-respiratoires et de la motricité. (DevAH), Université de Lorraine (UL), Service de Neurologie Pédiatrique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Institüt für Humangenetik [Würzburg], Julius-Maximilians-Universität Würzburg [Wurtzbourg, Allemagne] (JMU), Neurogenetics Group, Institute Born-Bunge, University of Antwerp (UA), The Wellcome Trust Sanger Institute [Cambridge], Department of Medical and Clinical Genetics [Helsinki], Haartman Institute [Helsinki], Faculty of Medecine [Helsinki], University of Helsinki-University of Helsinki-Faculty of Medecine [Helsinki], University of Helsinki-University of Helsinki, University of Helsinki, University Medical Center of Schleswig–Holstein = Universitätsklinikum Schleswig-Holstein (UKSH), Kiel University, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Développement, Adaptation et Handicap. Régulations cardio-respiratoires et de la motricité (DevAH), EuroEPINOMICS RES Consortium, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service Neurologie Pédiatrique [CHU Toulouse], Pôle Enfants [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Julius-Maximilians-Universität Würzburg (JMU), Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Faculty of Medecine [Helsinki], Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Helsingin yliopisto = Helsingfors universitet = University of Helsinki, and Helsingin yliopisto = Helsingfors universitet = University of Helsinki

Subjects
Male, MESH: Sequence Analysis, DNA, Patch-Clamp Techniques, Potassium Channels, MESH: Spasms, Infantile, MESH: Sequence Homology, Amino Acid, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Mutant, DNA Mutational Analysis, Sequence Homology, MESH: Cricetinae, Aicardi Syndrome, Amino Acid Sequence, Animals, CHO Cells, Child, Preschool, Cohort Studies, Cricetinae, Cricetulus, Female, Humans, Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels, Infant, Molecular Sequence Data, Mutation, Missense, Pedigree, Sequence Analysis, DNA, Sequence Homology, Amino Acid, Spasms, Infantile, Point Mutation, Genetics, MESH: Amino Acid Sequence, Bioinformatics, Infantile, Spasms, Epilepsy, 0302 clinical medicine, MESH: Cricetulus, Missense mutation, MESH: Animals, MESH: DNA Mutational Analysis, Child, MESH: Cohort Studies, Exome sequencing, 0303 health sciences, MESH: Potassium Channels, de novo mutation, epileptic encephalopathies, MESH: Infant, 3. Good health, Amino Acid, Sequence Analysis, MESH: Pedigree, Biology, 03 medical and health sciences, Dravet syndrome, MESH: CHO Cells, MESH: Patch-Clamp Techniques, medicine, Homomeric, MESH: Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels, MESH: Aicardi Syndrome, Preschool, Gene, 030304 developmental biology, MESH: Point Mutation, MESH: Mutation, Missense, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, MESH: Humans, MESH: Molecular Sequence Data, Point mutation, MESH: Child, Preschool, DNA, medicine.disease, MESH: Male, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Mutation, Human medicine, Missense, MESH: Female, 030217 neurology & neurosurgery
Abstract

International audience; Hyperpolarization-activated, cyclic nucleotide-gated (HCN) channels contribute to cationic Ih current in neurons and regulate the excitability of neuronal networks. Studies in rat models have shown that the Hcn1 gene has a key role in epilepsy, but clinical evidence implicating HCN1 mutations in human epilepsy is lacking. We carried out exome sequencing for parent-offspring trios with fever-sensitive, intractable epileptic encephalopathy, leading to the discovery of two de novo missense HCN1 mutations. Screening of follow-up cohorts comprising 157 cases in total identified 4 additional amino acid substitutions. Patch-clamp recordings of Ih currents in cells expressing wild-type or mutant human HCN1 channels showed that the mutations had striking but divergent effects on homomeric channels. Individuals with mutations had clinical features resembling those of Dravet syndrome with progression toward atypical absences, intellectual disability and autistic traits. These findings provide clear evidence that de novo HCN1 point mutations cause a recognizable early-onset epileptic encephalopathy in humans.

Published
2014
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35. Juvenile myoclonic epilepsy phenotype in a family with Unverricht‐Lundborg disease

Author

Berrechid, Amina Gargouri, Bendjebara, Mouna, Bouteiller, Delphine, Nasri, Amina, Peuvion, Jean‐Noël, Marie, Yannick, Baulac, Stéphanie, Mrabet, Saloua, Ribierre, Théo, Cazeneuve, Cecile, Imenkacem, Leguern, Eric, and Gouider, Riadh

Abstract

Aims. Unverricht‐Lundborg disease (ULD), an autosomal recessive progressive myoclonus epilepsy, is due to an expansion, or less commonly a mutation, of the cystatin B (CSTB) gene. We report a clinical and molecular study of a Tunisian ULD family with five affected members presenting with a juvenile myoclonic epilepsy (JME)‐like phenotype. Methods. The expansion of dodecamers was detected by a deamination/PCR assay. The expression profiles of CSTBand other candidate modifying genes, cathepsin B and cystatin C, were established by quantitative RT‐PCR, and their respective transcription levels were compared with those from patients with a classic picture of ULD. Results. Three patients had a fixed phenotype mimicking JME after 29 years of evolution. Only a discrete dysarthria was noticed in the two other patients. No correlation was observed between transcription level and severity of disease. Conclusion. Genetic screening should be performed in patients with a JME‐like phenotype, when careful examination reveals discrete atypical signs of JME. This particular phenotype may be due to modifying genes and/or gene‐environment interactions which require further clarification.

Published
2019
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36. De novo mutations in HCN1 cause early infantile epileptic encephalopathy

Author

May, Patrick [collaborator], Balling, Rudi [collaborator], Barisic, Nina [collaborator], Baulac, Stéphanie [collaborator], Caglayan, Hande S. [collaborator], Craiu, Dana C. [collaborator], De Jonghe, Peter [collaborator], Depienne, Christel [collaborator], Gormley, Padhraig [collaborator], Guerrini, Renzo [collaborator], Helbig, Ingo [collaborator], Hjalgrim, Helle [collaborator], Hoffman-Zacharska, Dorota [collaborator], Jähn, Johanna [collaborator], Klein, Karl Martin [collaborator], Koeleman, Bobby P. C. [collaborator], Komarek, Vladimir [collaborator], Krause, Roland [collaborator], LeGuern, Eric [collaborator], Lehesjoki, Anna-Elina [collaborator], Lemke, Johannes R. [collaborator], Lerche, Holger [collaborator], Marini, Carla [collaborator], Møller, Rikke S. [collaborator], Muhle, Hiltrud [collaborator], Palotie, Aarno [collaborator], Pal, Deb [collaborator], Rosenow, Felix [collaborator], Selmer, Kaja [collaborator], Serratosa, José M. [collaborator], Sisodiya, Sanjay [collaborator], Stephani, Ulrich [collaborator], Sterbova, Katalin [collaborator], Striano, Pasquale [collaborator], Suls, Arvid [collaborator], Talvik, Tiina [collaborator], von Spiczak, Sarah [collaborator], Weber, Yvonne [collaborator], Weckhuysen, Sarah [collaborator], Zara, Federico [collaborator], Luxembourg Centre for Systems Biomedicine (LCSB): Experimental Neurobiology (Balling Group) [research center], Nava, Caroline, Dalle, Carine, Rastetter, Agnès, Striano, Pasquale, de Kovel, Carolien G. F., Nabbout, Rima, Cancès, Claude, Ville, Dorothée, Brilstra, Eva H., Gobbi, Giuseppe, Raffo, Emmanuel, Bouteiller, Delphine, Marie, Yannick, Trouillard, Oriane, Robbiano, Angela, Keren, Boris, Agher, Dahbia, Roze, Emmanuel, Lesage, Suzanne, Nicolas, Aude, Brice, Alexis, Baulac, Michel, Vogt, Cornelia, El Hajj, Nady, Schneider, Eberhard, Suls, Arvid, Weckhuysen, Sarah, Gormley, Padhraig, Lehesjoki, Anna-Elina, De Jonghe, Peter, Helbig, Ingo, Baulac, Stephanie, Zara, Federico, Koeleman, Bobby P. C., Consortium, Euroepinomics R. E. S., Haaf, Thomas, LeGuern, Eric, Depienne, Christel, May, Patrick [collaborator], Balling, Rudi [collaborator], Barisic, Nina [collaborator], Baulac, Stéphanie [collaborator], Caglayan, Hande S. [collaborator], Craiu, Dana C. [collaborator], De Jonghe, Peter [collaborator], Depienne, Christel [collaborator], Gormley, Padhraig [collaborator], Guerrini, Renzo [collaborator], Helbig, Ingo [collaborator], Hjalgrim, Helle [collaborator], Hoffman-Zacharska, Dorota [collaborator], Jähn, Johanna [collaborator], Klein, Karl Martin [collaborator], Koeleman, Bobby P. C. [collaborator], Komarek, Vladimir [collaborator], Krause, Roland [collaborator], LeGuern, Eric [collaborator], Lehesjoki, Anna-Elina [collaborator], Lemke, Johannes R. [collaborator], Lerche, Holger [collaborator], Marini, Carla [collaborator], Møller, Rikke S. [collaborator], Muhle, Hiltrud [collaborator], Palotie, Aarno [collaborator], Pal, Deb [collaborator], Rosenow, Felix [collaborator], Selmer, Kaja [collaborator], Serratosa, José M. [collaborator], Sisodiya, Sanjay [collaborator], Stephani, Ulrich [collaborator], Sterbova, Katalin [collaborator], Striano, Pasquale [collaborator], Suls, Arvid [collaborator], Talvik, Tiina [collaborator], von Spiczak, Sarah [collaborator], Weber, Yvonne [collaborator], Weckhuysen, Sarah [collaborator], Zara, Federico [collaborator], Luxembourg Centre for Systems Biomedicine (LCSB): Experimental Neurobiology (Balling Group) [research center], Nava, Caroline, Dalle, Carine, Rastetter, Agnès, Striano, Pasquale, de Kovel, Carolien G. F., Nabbout, Rima, Cancès, Claude, Ville, Dorothée, Brilstra, Eva H., Gobbi, Giuseppe, Raffo, Emmanuel, Bouteiller, Delphine, Marie, Yannick, Trouillard, Oriane, Robbiano, Angela, Keren, Boris, Agher, Dahbia, Roze, Emmanuel, Lesage, Suzanne, Nicolas, Aude, Brice, Alexis, Baulac, Michel, Vogt, Cornelia, El Hajj, Nady, Schneider, Eberhard, Suls, Arvid, Weckhuysen, Sarah, Gormley, Padhraig, Lehesjoki, Anna-Elina, De Jonghe, Peter, Helbig, Ingo, Baulac, Stephanie, Zara, Federico, Koeleman, Bobby P. C., Consortium, Euroepinomics R. E. S., Haaf, Thomas, LeGuern, Eric, and Depienne, Christel

Published
2014

37. Autism, language delay and mental retardation in a patient with 7q11 duplication

Author

Depienne, Christel, Héron, Delphine, Betancur, Catalina, Benyahia, Baya, Trouillard, Oriane, Bouteiller, Delphine, Verloes, Alain, Leguern, Eric, Leboyer, Marion, Brice, Alexis, Neurologie et thérapeutique expérimentale, Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR70-Université Pierre et Marie Curie - Paris 6 (UPMC), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Neurobiologie et Psychiatrie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Unité fonctionnelle de génétique clinique, Université Paris Diderot - Paris 7 (UPD7)-Hôpital Robert Debré-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), and This research was supported by Fondation de France, Fondation pour la Recherche Médicale, Fondation France Télécom, INSERM and Assistance Publique-Hôpitaux de Paris.

Subjects
[SDV.GEN]Life Sciences [q-bio]/Genetics, duplication, autism, mental retardation, language delay, 7q11
Abstract

International audience; BACKGROUND: Chromosomal rearrangements, arising from unequal recombination between repeated sequences, are found in a subset of patients with autism. Duplications involving loci associated with behavioural disturbances constitute an especially good candidate mechanism. The Williams-Beuren critical region (WBCR), located at 7q11.23, is commonly deleted in Williams-Beuren microdeletion syndrome (WBS). However, only four patients with a duplication of the WBCR have been reported to date: one with severe language delay and the three others with variable developmental, psychomotor and language delay. OBJECTIVE AND METHODS: In this study, we screened 206 patients with autism spectrum disorders for the WBCR duplication by quantitative microsatellite analysis and multiple ligation-dependent probe amplification. RESULTS: We identified one male patient with a de novo interstitial duplication of the entire WBCR of paternal origin. The patient had autistic disorder, severe language delay and mental retardation, with very mild dysmorphic features. CONCLUSION: We report the first patient with autistic disorder and a WBCR duplication. This observation indicates that the 7q11.23 duplication could be involved in complex clinical phenotypes, ranging from developmental or language delay to mental retardation and autism, and extends the phenotype initially reported. These findings also support the existence of one or several genes in 7q11.23 sensitive to gene dosage and involved in the development of language and social interaction.

Published
2007
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39. PRRT2 mutations

Author

Méneret, Aurélie, primary, Grabli, David, additional, Depienne, Christel, additional, Gaudebout, Cécile, additional, Picard, Fabienne, additional, Dürr, Alexandra, additional, Lagroua, Isabelle, additional, Bouteiller, Delphine, additional, Mignot, Cyril, additional, Doummar, Diane, additional, Anheim, Mathieu, additional, Tranchant, Christine, additional, Burbaud, Pierre, additional, Jedynak, Charles Pierre, additional, Gras, Domitille, additional, Steschenko, Dominique, additional, Devos, David, additional, Billette de Villemeur, Thierry, additional, Vidailhet, Marie, additional, Brice, Alexis, additional, and Roze, Emmanuel, additional

Published
2012
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40. RAD51 Haploinsufficiency Causes Congenital Mirror Movements in Humans

Author

Depienne, Christel, primary, Bouteiller, Delphine, additional, Méneret, Aurélie, additional, Billot, Ségolène, additional, Groppa, Sergiu, additional, Klebe, Stephan, additional, Charbonnier-Beaupel, Fanny, additional, Corvol, Jean-Christophe, additional, Saraiva, Jean-Paul, additional, Brueggemann, Norbert, additional, Bhatia, Kailash, additional, Cincotta, Massimo, additional, Brochard, Vanessa, additional, Flamand-Roze, Constance, additional, Carpentier, Wassila, additional, Meunier, Sabine, additional, Marie, Yannick, additional, Gaussen, Marion, additional, Stevanin, Giovanni, additional, Wehrle, Rosine, additional, Vidailhet, Marie, additional, Klein, Christine, additional, Dusart, Isabelle, additional, Brice, Alexis, additional, and Roze, Emmanuel, additional

Published
2012
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41. KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations

Author

Klebe, Stephan, primary, Lossos, Alexander, additional, Azzedine, Hamid, additional, Mundwiller, Emeline, additional, Sheffer, Ruth, additional, Gaussen, Marion, additional, Marelli, Cecilia, additional, Nawara, Magdalena, additional, Carpentier, Wassila, additional, Meyer, Vincent, additional, Rastetter, Agnès, additional, Martin, Elodie, additional, Bouteiller, Delphine, additional, Orlando, Laurent, additional, Gyapay, Gabor, additional, El-Hachimi, Khalid H, additional, Zimmerman, Batel, additional, Gamliel, Moriya, additional, Misk, Adel, additional, Lerer, Israela, additional, Brice, Alexis, additional, Durr, Alexandra, additional, and Stevanin, Giovanni, additional

Published
2012
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42. Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females

Author

Depienne, Christel, primary, Trouillard, Oriane, additional, Bouteiller, Delphine, additional, Gourfinkel-An, Isabelle, additional, Poirier, Karine, additional, Rivier, François, additional, Berquin, Patrick, additional, Nabbout, Rima, additional, Chaigne, Denys, additional, Steschenko, Dominique, additional, Gautier, Agnès, additional, Hoffman-Zacharska, Dorota, additional, Lannuzel, Annie, additional, Lackmy-Port-Lis, Marilyn, additional, Maurey, Hélène, additional, Dusser, Anne, additional, Bru, Marie, additional, Gilbert-Dussardier, Brigitte, additional, Roubertie, Agathe, additional, Kaminska, Anna, additional, Whalen, Sandra, additional, Mignot, Cyril, additional, Baulac, Stéphanie, additional, Lesca, Gaetan, additional, Arzimanoglou, Alexis, additional, and LeGuern, Eric, additional

Published
2010
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43. Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders

Author

Depienne, Christel, primary, Moreno-De-Luca, Daniel, additional, Heron, Delphine, additional, Bouteiller, Delphine, additional, Gennetier, Aurélie, additional, Delorme, Richard, additional, Chaste, Pauline, additional, Siffroi, Jean-Pierre, additional, Chantot-Bastaraud, Sandra, additional, Benyahia, Baya, additional, Trouillard, Oriane, additional, Nygren, Gudrun, additional, Kopp, Svenny, additional, Johansson, Maria, additional, Rastam, Maria, additional, Burglen, Lydie, additional, Leguern, Eric, additional, Verloes, Alain, additional, Leboyer, Marion, additional, Brice, Alexis, additional, Gillberg, Christopher, additional, and Betancur, Catalina, additional

Published
2009
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44. Correction: Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

Author

Depienne, Christel, primary, Bouteiller, Delphine, additional, Keren, Boris, additional, Cheuret, Emmanuel, additional, Poirier, Karine, additional, Trouillard, Oriane, additional, Benyahia, Baya, additional, Quelin, Chloé, additional, Carpentier, Wassila, additional, Julia, Sophie, additional, Afenjar, Alexandra, additional, Gautier, Agnès, additional, Rivier, François, additional, Meyer, Sophie, additional, Berquin, Patrick, additional, Hélias, Marie, additional, Py, Isabelle, additional, Rivera, Serge, additional, Bahi-Buisson, Nadia, additional, Gourfinkel-An, Isabelle, additional, Cazeneuve, Cécile, additional, Ruberg, Merle, additional, Brice, Alexis, additional, Nabbout, Rima, additional, and LeGuern, Eric, additional

Published
2009
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45. Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

Author

Depienne, Christel, primary, Bouteiller, Delphine, additional, Keren, Boris, additional, Cheuret, Emmanuel, additional, Poirier, Karine, additional, Trouillard, Oriane, additional, Benyahia, Baya, additional, Quelin, Chloé, additional, Carpentier, Wassila, additional, Julia, Sophie, additional, Afenjar, Alexandra, additional, Gautier, Agnès, additional, Rivier, François, additional, Meyer, Sophie, additional, Berquin, Patrick, additional, Hélias, Marie, additional, Py, Isabelle, additional, Rivera, Serge, additional, Bahi-Buisson, Nadia, additional, Gourfinkel-An, Isabelle, additional, Cazeneuve, Cécile, additional, Ruberg, Merle, additional, Brice, Alexis, additional, Nabbout, Rima, additional, and LeGuern, Eric, additional

Published
2009
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47. Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases.

Author

Méneret, Aurélie, Depienne, Christel, Riant, Florence, Trouillard, Oriane, Bouteiller, Delphine, Cincotta, Massimo, Bitoun, Pierre, Wickert, Julia, Lagroua, Isabelle, Westenberger, Ana, Borgheresi, Alessandra, Doummar, Diane, Romano, Marcello, Rossi, Simone, Defebvre, Luc, De Meirleir, Linda, Espay, Alberto J, Fiori, Simona, Klebe, Stephan, and Quélin, Chloé

Published
2014
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48. Congenital mirror movements

Author

Méneret, Aurélie, Depienne, Christel, Riant, Florence, Trouillard, Oriane, Bouteiller, Delphine, Cincotta, Massimo, Bitoun, Pierre, Wickert, Julia, Lagroua, Isabelle, Westenberger, Ana, Borgheresi, Alessandra, Doummar, Diane, Romano, Marcello, Rossi, Simone, Defebvre, Luc, De Meirleir, Linda, Espay, Alberto J., Fiori, Simona, Klebe, Stephan, Quélin, Chloé, Rudnik-Schöneborn, Sabine, Plessis, Ghislaine, Dale, Russell C., Sklower Brooks, Susan, Dziezyc, Karolina, Pollak, Pierre, Golmard, Jean-Louis, Vidailhet, Marie, Brice, Alexis, and Roze, Emmanuel

Abstract

We screened a large series of individuals with congenital mirror movements (CMM) for mutations in the 2 identified causative genes, DCCand RAD51.

Published
2014
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49. PRRT2mutations

Author

Méneret, Aurélie, Grabli, David, Depienne, Christel, Gaudebout, Cécile, Picard, Fabienne, Dürr, Alexandra, Lagroua, Isabelle, Bouteiller, Delphine, Mignot, Cyril, Doummar, Diane, Anheim, Mathieu, Tranchant, Christine, Burbaud, Pierre, Jedynak, Charles Pierre, Gras, Domitille, Steschenko, Dominique, Devos, David, Billette de Villemeur, Thierry, Vidailhet, Marie, Brice, Alexis, and Roze, Emmanuel

Abstract

Paroxysmal kinesigenic dyskinesia (PKD) is a rare disorder characterized by recurrent attacks of hyperkinetic movements. PKD can be isolated or associated with benign infantile seizures as part of the infantile convulsions with choreoathetosis (ICCA) syndrome. Mutations in the PRRT2gene were recently identified in patients with PKD and ICCA. We studied the prevalence of PRRT2mutations and characteristics of the patients in a European population of patients with PKD and ICCA.

Published
2012
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50. Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

Author

Florian, Rahel T., Kraft, Florian, Leitão, Elsa, Kaya, Sabine, Klebe, Stephan, Magnin, Eloi, Van Rootselaar, Anne-Fleur, Buratti, Julien, Kühnel, Theresa, Schröder, Christopher, Gießelmann, Sebastian, Tschernoster, Nikolai, Altmueller, Janine, Lamiral, Anaide, Keren, Boris, Nava, Caroline, Bouteiller, Delphine, Forlani, Sylvie, Jornea, Ludmila, Kubica, Regina, Ye, Tao, Plassard, Damien, Jost, Bernard, Meyer, Vincent, Deleuze, Jean-François, Delpu, Yannick, Avarello, Mario D. M., Vijfhuizen, Lisanne S., Rudolf, Gabrielle, Hirsch, Edouard, Kroes, Thessa, Reif, Philipp S., Rosenow, Felix, Ganos, Christos, Vidailhet, Marie, Thivard, Lionel, Mathieu, Alexandre, Bourgeron, Thomas, Kurth, Ingo, Rafehi, Haloom, Steenpass, Laura, Horsthemke, Bernhard, LeGuern, Eric, Klein, Karl Martin, Labauge, Pierre, Bennett, Mark F., Bahlo, Melanie, Gecz, Jozef, Corbett, Mark A., Tijssen, Marina A. J., Van Den Maagdenberg, Arn M. J. M., and Depienne, Christel

Subjects
10. No inequality
Abstract

Nature Communications 10, 4919 (2019). doi:10.1038/s41467-019-12763-9, Published by Nature Publishing Group UK, [London]

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