Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Matthieu Milh"'
Autor:
Nadia Bahi-Buisson, Christian Korff, Koen L.I. van Gassen, Nathalie Villeneuve, Heather C Mefford, Ronit M. Pressler, Anna Kaminska, Amélie Piton, Nienke E. Verbeek, Ingrid E. Scheffer, Lynette G. Sadleir, Alexandre N. Datta, Fiona Gardiner, Anne Lépine, J. Helen Cross, Matthieu Milh, Susanne Ruf, Gaetan Lesca, Bénédicte Héron, Sarah E. Buerki, Cyrill Mignot, Thierry Bienvenu, Anne de Saint Martin, Pia Zacher, Amy McTague, Johannes R. Lemke, Dorothée Ville
Publikováno v:
Epilepsia
Objective Asparagine‐linked glycosylation 13 (ALG13) deficiencies have been repeatedly described in the literature with the clinical phenotype of a developmental and epileptic encephalopathy (DEE). Most cases were females carrying the recurrent ALG
Autor:
Emilie Carme, Anne de Saint Martin, Rima Nabbout, Cécile Laroche, Nathalie Villeneuve, Julien Modolo, Pascal Benquet, Fabrice Wendling, Anna Kaminska, Giulia Barcia, Edouard Hirsch, Paul Sauleau, Nicole Chemaly, Fanny Dubois, Mathieu Kuchenbuch, Agathe Roubertie, Matthieu Milh
Publikováno v:
Epilepsia
Epilepsia, 2019, 60 (1), pp.20-32. ⟨10.1111/epi.14605⟩
Epilepsia, Wiley, 2019, 60 (1), pp.20-32. ⟨10.1111/epi.14605⟩
Epilepsia, 2019, 60 (1), pp.20-32. ⟨10.1111/epi.14605⟩
Epilepsia, Wiley, 2019, 60 (1), pp.20-32. ⟨10.1111/epi.14605⟩
International audience; Objective - We aimed to characterize epilepsy of infancy with migrating focal seizures (EIMFS), a rare, severe early onset developmental epilepsy related to KCNT1 mutation, and to define specific electroencephalography (EEG) m
Autor:
Dorothée Ville, Amy Goldstein, Holly Dubbs, Adeline Vanderver, Anne-Lise Poulat, Tanner Hagelstrom, Amy Pizzino, Christian P. Schaaf, Denise L. Perry, Alka Malhotra, Arastoo Vossough, Charles Perrine, Gaetan Lesca, Laura Adang, Matthieu Milh, Ingo Helbig, Anna-Kaisa Anttonen, Catherine Williams, Omar Sherbini, Chloé Laurencin, Tarja Linnankivi, Ryan J. Taft
Publikováno v:
Pediatr Neurol
Background Mutations in the X-linked gene WDR45 cause neurodegeneration with brain iron accumulation type 5. Global developmental delay occurs at an early age with slow progression to dystonia, parkinsonism, and dementia due to progressive iron accum
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ebcf29f58f20710126db43e131901c5
http://hdl.handle.net/10138/327777
http://hdl.handle.net/10138/327777
Autor:
Andreas Brunklaus, David Baez-Nieto, Matthieu Milh, Bertrand Isidor, Hilde Van Esch, Joseph D. Symonds, Ingo Helbig, Stephanie Schorge, Arthur J. Campbell, Annapurna Poduri, Jen Q. Pan, Ismael I. Ghanty, Dana Craiu, Haoran Wang, Jordane Dimidschstein, Felix Steckler, Dennis Lal, Tiffany Busa, Heather E. Olson, Andrew J. Allen, Katrine M. Johannesen, Sarah Weckhuysen, Holger Lerche, Christel Depienne, Peter DeJonge, Beth Rosen Sheidley, Henrike O. Heyne, Christina Fenger, Rikke S. Møller, Sameer M. Zuberi, Juanjiangmeng Du, Stephen Sanders
Publikováno v:
Epilepsia
Epilepsia, 2020, 61, pp.387-399. ⟨10.1111/epi.16438⟩
Brunklaus, A, Du, J, Steckler, F, Ghanty, I I, Johannesen, K M, Fenger, C D, Schorge, S, Baez-Nieto, D, Wang, H R, Allen, A, Pan, J Q, Lerche, H, Heyne, H, Symonds, J D, Zuberi, S M, Sanders, S, Sheidley, B R, Craiu, D, Olson, H E, Weckhuysen, S, DeJonge, P, Helbig, I, Van Esch, H, Busa, T, Milh, M, Isidor, B, Depienne, C, Poduri, A, Campbell, A J, Dimidschstein, J, Møller, R S & Lal, D 2020, ' Biological concepts in human sodium channel epilepsies and their relevance in clinical practice ', Epilepsia, vol. 61, no. 3, pp. 387-399 . https://doi.org/10.1111/epi.16438
Epilepsia, Wiley, 2020, 61, pp.387-399. ⟨10.1111/epi.16438⟩
Epilepsia, 2020, 61, pp.387-399. ⟨10.1111/epi.16438⟩
Brunklaus, A, Du, J, Steckler, F, Ghanty, I I, Johannesen, K M, Fenger, C D, Schorge, S, Baez-Nieto, D, Wang, H R, Allen, A, Pan, J Q, Lerche, H, Heyne, H, Symonds, J D, Zuberi, S M, Sanders, S, Sheidley, B R, Craiu, D, Olson, H E, Weckhuysen, S, DeJonge, P, Helbig, I, Van Esch, H, Busa, T, Milh, M, Isidor, B, Depienne, C, Poduri, A, Campbell, A J, Dimidschstein, J, Møller, R S & Lal, D 2020, ' Biological concepts in human sodium channel epilepsies and their relevance in clinical practice ', Epilepsia, vol. 61, no. 3, pp. 387-399 . https://doi.org/10.1111/epi.16438
Epilepsia, Wiley, 2020, 61, pp.387-399. ⟨10.1111/epi.16438⟩
International audience; ObjectiveVoltage‐gated sodium channels (SCNs) share similar amino acid sequence, structure, and function. Genetic variants in the four human brain‐expressed SCN genes SCN1A/2A/3A/8A have been associated with heterogeneous
Autor:
Grégoire, Benoist, Antoine, Bourrillon, Christophe, Delacourt, Christèle, Gras-Le Guen, Benoit, Billy (de), Agnès, Liard-Zmuda, Patrick, Tounian, François, Angoulvant, Jean-Baptiste, Arnoux, Frédéric, Auber, Guillaume, Aubertin, Georges, Audry, Stéphane, Auvin, Justine, Bacchetta, Martine, Balençon, Pascal, Barat, Marc, Bellaïche, Jacques, Beltrand, Etienne, Bidat, Arnaud, Bonnard, Claire, Bouvattier, Dominique, Bremond-Gignac, Frédéric, Brioude, Olivier, Brissaud, Jean-Claude, Carel, Ania, Carsin, Mireille, Castanet, Brigitte, Chabrol, Gérard, Chéron, Bertrand, Chevallier, Jacques, Cheymol, Pierre, Corre, Régis, Coutant, Laurianne, Coutier, Pierrick, Cros, Jean-Christophe, Cuvellier, Jean-Hugues, Dalle, Stéphane, Dauger, Céline, Delestrain, Amandine, Divaret-Chauveau, François, Doz, David, Drummond, Béatrice, Dubern, Sophie, Dugue, Thomas, Édouard, Brigitte, Fauroux, Albert, Faye, Pierre, Fayoux, Cyril, Flamant, Elisabeth, Fournier-Charrière, Virginie, Gandemer, Alexandra, Gauthier, Olivia, Gillion-Boyer, Lisa, Giovannini-Chami, Emmanuel, Grimprel, Alice, Hadchouel-Duvergé, Sébastien, Héritier, Christina, Ioan Iulia, Pierre-Henri, Jarreau, Etienne, Javouhey, Eric, Jeziorski, Elsa, Kermorvant, Béatrice, Kugener, François, Labarthe, André, Labbé, Géraldine, Labouret, Elise, Launay, Rémi, Laporte, Nicolas, Leboulanger, Joël, Lechevallier, Juliane, Léger, Stéphanie, Lejeune, Stéphanie, Leroux, Guillaume, Lezmi, Anne, Lienhardt-Roussie, Agnès, Linglart, Mathie, Lorrot, Natalie, Loundon, Jehanne, Malek, Christophe, Marguet, Aude, Marie Cardine, Laetitia, Martinerie, Emmanuel, Mas, Thierry, Merrot, Matthieu, Milh, Despina, Moshous, Pierre-Yves, Mure, Javotte, Nancy, Nadia, Nathan, Irene, Netchine, Marc, Nicolino, Richard, Nicollas, Sylvie, Odent, Caroline, Ovaert, Françoise, Paris, Laurent, Pasquier, Aurélie, Phulpin, Capucine, Picard, Georges, Picherot, Guillaume, Podevin, Michel, Polak, Philippe, Ravasse, Rachel, Reynaud, Sylvie, Rossignol, Sébastien, Rouget, Jean-Christophe, Rozé, Philippe, Sachs, Frédérique, Sauvat, Cyril, Schweitzer, Isabelle, Sermet-Gaudelus, Chantal, Stheneur, Isabelle, Talon, Aline, Tamalet, Maïté, Tauber, Jessica, Taytard, Jean-Benoît, Thambo, Caroline, Thumerelle, Renaud, Tournemire (de), Barbara, Tourniaire, Michel, Tsimaratos, François, Varlet, Alain, Verloes, Ariane, Zaloszyc, Catherine, Cyteval, Philippe, Petit, Damien, Bonnard, Emmanuel, Lescanne
Publikováno v:
In Pédiatrie Edition: Eighth Edition. 2020:xxix-xxxii