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1. Phosphatidylserine enriched with polyunsaturated n‐3 fatty acid supplementation for attention‐deficit hyperactivity disorder in children and adolescents with epilepsy: A randomized placebo‐controlled trial

Author

Sylvain Rheims, Vania Herbillon, Ségolène Gaillard, Catherine Mercier, Nathalie Villeuve, Frédéric Villéga, Claude Cances, Pierre Castelnau, Silvia Napuri, Anne de Saint‐Martin, Stéphane Auvin, Sylvie Nguyen The Tich, Patrick Berquin, Julitta deBellecize, Mathieu Milh, Pascal Roy, Alexis Arzimanoglou, Jacques Bodennec, Laurent Bezin, Behrouz Kassai, and the investigators of the AGPI study group

Subjects
ADHD, epilepsy, omega 3, polyunsaturated n‐3 fatty acid, Neurology. Diseases of the nervous system, RC346-429
Abstract

Abstract Background Attention‐deficit hyperactivity disorder (ADHD) is a frequent comorbidity in children with epilepsy, which management mostly relies on the usual treatments of ADHD, especially methylphenidate. Supplementation with polyunsaturated n‐3 Fatty Acid (PUFA) has been proposed as an alternative therapeutic approach in ADHD without epilepsy but has never been evaluated in epilepsy‐associated ADHD. Methods A multicenter double blind randomized placebo‐controlled trial evaluating supplementation with PUFA, in eicosapentaenoic‐ and docosahexaenoic‐acid form, conjugated to a phospholipid vector (PS‐Omega3) in children aged >6 and

Published
2024
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3. Copy Number Variation and Epilepsy: State of the Art in the Era of High-Throughput Sequencing—A Multicenter Cohort Study

Author

Baer, Sarah, Schalk, Audrey, Miguet, Marguerite, Schaefer, Élise, El Chehadeh, Salima, Ginglinger, Emmanuelle, de Saint Martin, Anne, Abi Wardé, Marie-Thérèse, Laugel, Vincent, de Feraudy, Yvan, Gauer, Lucas, Hirsch, Edouard, Boulay, Clotilde, Bansept, Claire, Bolocan, Anamaria, Kitadinis, Ismini, Gouronc, Aurélie, Gérard, Bénédicte, Piton, Amélie, and Scheidecker, Sophie

Published
2024
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4. Frequency and clinical relevance of MOG-antibodies in CSF in pediatric patients with MOG antibody-associated diseases

Author

Maillart, Elisabeth, LE Moing, Anne-Gaëlle, Amsalem, Daniel, Villega, Fréderic, Peudenier, Sylviane, Nguyen-The Tich, Sylvie, Lepine, Anne, Meyer, Pierre, Vincent, Hélène, Renaldo, Florence, Aubart, Melodie, Auvin, Stéphane, DE Saint-Martin, Anne, Cheuret, Emmanuel, Castelnau, Pierre, Robin, Stéphanie, Ruet, Aurélie, Zephir, Hélène, Audoin, Bertrand, Ayrignac, Xavier, Laplaud, David, Cohen, Mickael, Papeix, Caroline, Bourre, Bertrand, Collongues, Nicolas, Ciron, Jonathan, Galati, G., Pique, J., Horellou, P., Leroy, C., Poinsot, M., Marignier, R., Giorgi, L., and Deiva, K.

Published
2024
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5. Immunovirological status in people with perinatal and adult-acquired HIV-1 infection: a multi-cohort analysis from FranceResearch in context

Author

Rémonie Seng, Pierre Frange, Albert Faye, Catherine Dollfus, Jérôme le Chenadec, Faroudy Boufassa, Asma Essat, Tessa Goetghebuer, Elisa Arezes, Véronique Avettand-Fènoël, Jean-Joël Bigna, Stéphane Blanche, Cécile Goujard, Laurence Meyer, Josiane Warszawski, Jean-Paul Viard, H. Aumaitre, E. Froguel, F. Caby, S. Dellion, L. Gerard, F. Lucht, C. Chirouze, M. Dupon, Jl Schmit, C. Goujard, T. Allegre, B. Cazenave, G. Hittinger, P. De Truchis, J. Cailhol, C. Duvivier, A. Canestri, O. Bouchaud, M. Karmochkine, D. Salmon-Ceron, D. Zucman, E. Mortier, R. Tubiana, P.M. Girard, C. Pintado, A. Cabie, V. Rabier, P. Morlat, D. Neau, C. Genet, D. Makhloufi, S Bregigeon Ronot, J. Ghosn, V. Reliquet, P. Perré, Jl Pellegrin, C. Arvieux, C. Cheneau, L. Bernard, P. Delobel, R. Verdon, C. Jacomet, L. Piroth, F. Ajana, S. Bevilacqua, Y. Debab, A.L. Lecapitaine, L. Cotte, S. Mokhtari, P. Mercie, P. Poubeau, V. Garrait, Ma Khuong, G. Beck-Wirth, L. Blum, S. Blanche, F. Boccara, T. Prazuck, C. Barbuat, J.P. Viard, S. Stegmann-Planchard, B. Martha, J.M. Treluyer, E. Dore, C. Gaud, M. Niault, E. Fernandes, H. Hitoto, A. Compagnucci, N. Elenga, A. Faye, C. Dollfus, A. Chace, M. Levine, S.A. Martha, C. Floch-Tudal, K. Kebaïli, N. Entz-Werle, J. Tricoire, F. Mazingue, P. Bolot, P. Brazille, T. Goetghebuer, A.F. Gennotte, D. Van Der Linden, V. Schmitz, M. Moutschen, C. Crenn-Hebert, F. Habibi, A. Coursol, E. Guesdon, P.F. Ceccaldi, M. Dehlinger – Paul, E. Pannier, V. Marcou, C. Elleau, M. Achkar, M.O. Vareil, S. Couderc, C. Routier, M.A. Bouldouyre, L. Selleret, A. Chabrol, C. Bellahcene, C. Pluchart, A. Yangui, D. Vignes, A. Alissa, A. Johnson, E. Lachassinne, A. Benbara, L. Karaoui, A. Bongain, B. Yakeu, J.L. Schmit, L. Cravello, C. Hubert, P. Faucher, D. Pinquier, C. Borie, D. Rocchi, C. Brunet-Cartier, C. Briandet, J. Brouard, A. Chalvon-Demersay, M. Rajguru, K. Billiemaz, A. Fresard, A. Moulin, P. Fialaire, L. Mesnard, E. Werner, E. Vintejoux, J. Marian, S. Ranaivojaona, F. Bissuel, M. Abdelhadi, Y. Hammou, C. Genet-Villeger, Y. Hatchuel, G. Bachelard, M. Medus, J. Dendale – Nguyen, T.S. Guimard, A. Martha, M. Rouha, P. Perfezou, L. De Saint Martin, S. Jaffuel, R. Buzele, M. Gousseff, C. Cudeville, V. Vitrat, C. Michau, G. Palenzuela, M. Driessen, B. Heller-Roussin, J.M. Labaune, B. Muanza, J. Massardier, M. Partisani, I. Hau, C. Runel-Belliard, C. Brehin, K. Kebaili, M. Lalande, M. Lagree, K. Lacombe, J.-M. Molina, J. Reynes, O. Robineau, F. Raffi, A. Becker, L. Weiss, T. Allègre, G. Pialoux, F. Souala, A. Rami, C. Katlama, A. Cabié, J.-P. Viard, F. Bastides, C. Michel, D. Salmon, J-D Le Lièvre, A. Sotto, E. Rouveix, A. Naqvi, S. Brégigeon, R. Rodet, A. Simon-Coutelier, J.-L. Esnault, R. Buzelé, A. Stein, C. Godin-Colet, G. Pichancourt, P. Caraux-Paz, M Mohseni Zadeh, L. Gérard, C. Lascaux-Cametz, L. Bodard, J.-L. Pellegrin, N. Ettahar, A. Uludag, E. Rosenthal, F. Prevoteau du Clary, S. Jaureguiberry, P. Philibert, A.-L. Lecapitaine, E. Chakvetadze, H. Champagne, V. Daneluzzi, J. Goupil de Bouillé, A. Leprêtre, I. Lamaury, I. Darasteanu, B. Abraham, D. Garipuy, J.-L. Berger, J.-L. Schmit, K. Diallo, F. Gourdon, O. Vaillant, V. Gaborieau, J. Doll, D. Quinsat, L. Geffray, J.-J. Girard, D. Houlbert, V. Perronne, E. Klement, O. Antioniotti, C. Rouzioux, V. Avettand-Fenoel, O. Lortholary, S. Boucly, A. Maignan, R. Thiebaut, L. Meyer, F. Boufassa, M.A. Charles, R. Dray-Spira, C. Legeai, V. Amon, N. Benammar, R. Seng, L. Slama, P. Bonnard, C. Chakvetadze, T. L’Yavanc, J. Capeau, C. Vigouroux, S. Fellahi, J.P. Bastard, E. Oksenhendler, J.F. Bourge, V. Bajzik, D. Sereni, C. Lascoux-Combe, O. Taulera, L.V. Dien, J. Delgado, J.M. Molina, T. Saint-Marc, S. Ferret, J. Pavie, J.F. Bergmann, M. Parrinello, BLefebvre, C. Boudraa, B. Diallo, C. Lupin, S. Herson, A. Simon, N. Edeb, L. Guillevin, T. Tahi, M.P. Pietri, D. Tisne-Dessus, C. Jalbert, P. Yeni, S. Matheron, G. Pahlavan, B. Phung, N. El-Alami Talbi, Z. Ramani, G. Catalano, C. Godard, F. Boue, V. Chambrin, D. Bornarel, H. Schoen, R. Carlier, B. Fantin, C. Poder, R. Dhote, M. Bentata, P. Honore, Xuan Tuyet, J.F. Delfraissy, F. Chaix, M.T. Rannou, Y. Levy, A. Sobel, C. Dumont, S. Abel, S. Pierre-François, V. Beaujolais, I. Poizot-Martin, O. Zaegel-Faucher, C. Debreux, J. Moreau, E. Van Der Gheynst, M.C. Thiebaut-Drobacheff, A. Foltzer, B. Hoen, J.F. Faucher, H. Gil, J.M. Ragnaud, I. Raymond, I. Louis, M. Hessamfar, V. Baillat, C Merle De Boever, C. Tramoni, A. Soufflet, P. Guadagnin, P. Choutet, O. Mounoury, D. Brosseau, H. Hue, T. May, S. Wassoumbou, M. Stenzel, M.P. Bouillon, Y. Yazdanpanah, T. Huleux, E. Aissi, S. Pavel, D. Rey, P. Fischer, G. Blaison, M. Martinot, A. Pachart, F. Jeanblanc, J.L. Touraine, C. Trepo, P. Miailhes, K. Kouadjo, V. Thoirain, C. Brochier, P. Perre, S. Leautez, J.L. Esnault, and I. Suaud

Subjects
Perinatal HIV infection, Cohort, Viral failure, Immunological outcome, Epidemiology, Public aspects of medicine, RA1-1270
Abstract

Summary: Background: No study has compared the virological and immunological status of young people with perinatally-acquired HIV infection (P-HIV) with that of people with HIV adulthood (A-HIV) having a similar duration of infection. Methods: 5 French cohorts of P-HIV and A-HIV patients with a known date of HIV-infection and receiving antiretroviral treatment (ART), were used to compare the following proportions of: virological failure (VF) defined as plasma HIV RNA ≥ 50 copies/mL, CD4 cell percentages and CD4:CD8 ratios, at the time of the most recent visit since 2012. The analysis was stratified on time since infection, and multivariate models were adjusted for demographics and treatment history. Findings: 310 P-HIV were compared to 1515 A-HIV (median current ages 20.9 [IQR:14.4–25.5] and 45.9 [IQR:37.9–53.5] respectively). VF at the time of the most recent evaluation was significantly higher among P-HIV (22.6%, 69/306) than A-HIV (3.3%, 50/1514); p ≤ 0.0001. The risk of VF was particularly high among the youngest children (2–5 years), adolescents (13–17 years) and young adults (18–24 years), compared to A-HIV with a similar duration of infection: adjusted Odds-Ratio (aOR) 7.0 [95% CI: 1.7; 30.0], 11.4 [4.2; 31.2] and 3.3 [1.0; 10.8] respectively. The level of CD4 cell percentages did not differ between P-HIV and A-HIV. P-HIV aged 6–12 and 13–17 were more likely than A-HIV to have a CD4:CD8 ratio ≥ 1: 84.1% vs. 58.8% (aOR = 3.5 [1.5; 8.3]), and 60.9% vs. 54.7% (aOR = 1.9 [0.9; 4.2]) respectively. Interpretation: P-HIV were at a higher risk of VF than A-HIV with a similar duration of infection, even after adjusting for treatment history, whereas they were not at a higher risk of immunological impairment. Exposure to viral replication among young patients living with HIV since birth or a very early age, probably because of lower adherence, could have an impact on health, raising major concerns about the selection of resistance mutations and the risk of HIV transmission. Funding: Inserm - ANRS MIE.

Published
2024
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6. Immunovirological status in people with perinatal and adult-acquired HIV-1 infection: a multi-cohort analysis from France

Author

Aumaitre, H., Froguel, E., Caby, F., Dellion, S., Gerard, L., Lucht, F., Chirouze, C., Dupon, M., Schmit, Jl, Goujard, C., Allegre, T., Cazenave, B., Hittinger, G., De Truchis, P., Cailhol, J., Duvivier, C., Canestri, A., Bouchaud, O., Karmochkine, M., Salmon-Ceron, D., Zucman, D., Mortier, E., Tubiana, R., Girard, P.M., Pintado, C., Cabie, A., Rabier, V., Morlat, P., Neau, D., Genet, C., Makhloufi, D., Ronot, S Bregigeon, Ghosn, J., Reliquet, V., Perré, P., Pellegrin, Jl, Arvieux, C., Cheneau, C., Bernard, L., Delobel, P., Verdon, R., Jacomet, C., Piroth, L., Ajana, F., Bevilacqua, S., Debab, Y., Lecapitaine, A.L., Cotte, L., Mokhtari, S., Mercie, P., Poubeau, P., Garrait, V., Khuong, Ma, Beck-Wirth, G., Blum, L., Blanche, S., Boccara, F., Prazuck, T., Barbuat, C., Viard, J.P., Stegmann-Planchard, S., Martha, B., Treluyer, J.M., Dore, E., Gaud, C., Niault, M., Fernandes, E., Hitoto, H., Compagnucci, A., Elenga, N., Faye, A., Dollfus, C., Chace, A., Levine, M., Martha, S.A., Floch-Tudal, C., Kebaïli, K., Entz-Werle, N., Tricoire, J., Mazingue, F., Bolot, P., Brazille, P., Goetghebuer, T., Gennotte, A.F., Van Der Linden, D., Schmitz, V., Moutschen, M., Crenn-Hebert, C., Habibi, F., Coursol, A., Guesdon, E., Ceccaldi, P.F., Dehlinger – Paul, M., Pannier, E., Marcou, V., Elleau, C., Achkar, M., Vareil, M.O., Couderc, S., Routier, C., Bouldouyre, M.A., Selleret, L., Chabrol, A., Bellahcene, C., Pluchart, C., Yangui, A., Vignes, D., Alissa, A., Johnson, A., Lachassinne, E., Benbara, A., Karaoui, L., Bongain, A., Yakeu, B., Schmit, J.L., Cravello, L., Hubert, C., Faucher, P., Pinquier, D., Borie, C., Rocchi, D., Brunet-Cartier, C., Briandet, C., Brouard, J., Chalvon-Demersay, A., Rajguru, M., Billiemaz, K., Fresard, A., Moulin, A., Fialaire, P., Mesnard, L., Werner, E., Vintejoux, E., Marian, J., Ranaivojaona, S., Bissuel, F., Abdelhadi, M., Hammou, Y., Genet-Villeger, C., Hatchuel, Y., Bachelard, G., Medus, M., Dendale – Nguyen, J., Guimard, T.S., Martha, A., Rouha, M., Perfezou, P., De Saint Martin, L., Jaffuel, S., Buzele, R., Gousseff, M., Cudeville, C., Vitrat, V., Michau, C., Palenzuela, G., Driessen, M., Heller-Roussin, B., Labaune, J.M., Muanza, B., Massardier, J., Partisani, M., Hau, I., Runel-Belliard, C., Brehin, C., Kebaili, K., Lalande, M., Lagree, M., Lacombe, K., Molina, J.-M., Reynes, J., Robineau, O., Raffi, F., Becker, A., Weiss, L., Allègre, T., Pialoux, G., Souala, F., Rami, A., Katlama, C., Cabié, A., Viard, J.-P., Bastides, F., Michel, C., Salmon, D., Lièvre, J-D Le, Sotto, A., Rouveix, E., Naqvi, A., Brégigeon, S., Rodet, R., Simon-Coutelier, A., Esnault, J.-L., Buzelé, R., Stein, A., Godin-Colet, C., Pichancourt, G., Caraux-Paz, P., Zadeh, M Mohseni, Gérard, L., Lascaux-Cametz, C., Bodard, L., Pellegrin, J.-L., Ettahar, N., Uludag, A., Rosenthal, E., Prevoteau du Clary, F., Jaureguiberry, S., Philibert, P., Lecapitaine, A.-L., Chakvetadze, E., Champagne, H., Daneluzzi, V., Goupil de Bouillé, J., Leprêtre, A., Lamaury, I., Darasteanu, I., Abraham, B., Garipuy, D., Berger, J.-L., Schmit, J.-L., Diallo, K., Gourdon, F., Vaillant, O., Gaborieau, V., Doll, J., Quinsat, D., Geffray, L., Girard, J.-J., Houlbert, D., Perronne, V., Klement, E., Antioniotti, O., Rouzioux, C., Avettand-Fenoel, V., Lortholary, O., Boucly, S., Maignan, A., Thiebaut, R., Meyer, L., Boufassa, F., Charles, M.A., Dray-Spira, R., Legeai, C., Amon, V., Benammar, N., Seng, R., Slama, L., Bonnard, P., Chakvetadze, C., L’Yavanc, T., Capeau, J., Vigouroux, C., Fellahi, S., Bastard, J.P., Oksenhendler, E., Bourge, J.F., Bajzik, V., Sereni, D., Lascoux-Combe, C., Taulera, O., Dien, L.V., Delgado, J., Molina, J.M., Saint-Marc, T., Ferret, S., Pavie, J., Bergmann, J.F., Parrinello, M., BLefebvre, Boudraa, C., Diallo, B., Lupin, C., Herson, S., Simon, A., Edeb, N., Guillevin, L., Tahi, T., Pietri, M.P., Tisne-Dessus, D., Jalbert, C., Yeni, P., Matheron, S., Pahlavan, G., Phung, B., El-Alami Talbi, N., Ramani, Z., Catalano, G., Godard, C., Boue, F., Chambrin, V., Bornarel, D., Schoen, H., Carlier, R., Fantin, B., Poder, C., Dhote, R., Bentata, M., Honore, P., Tuyet, Xuan, Delfraissy, J.F., Chaix, F., Rannou, M.T., Levy, Y., Sobel, A., Dumont, C., Abel, S., Pierre-François, S., Beaujolais, V., Poizot-Martin, I., Zaegel-Faucher, O., Debreux, C., Moreau, J., Van Der Gheynst, E., Thiebaut-Drobacheff, M.C., Foltzer, A., Hoen, B., Faucher, J.F., Gil, H., Ragnaud, J.M., Raymond, I., Louis, I., Hessamfar, M., Baillat, V., De Boever, C Merle, Tramoni, C., Soufflet, A., Guadagnin, P., Choutet, P., Mounoury, O., Brosseau, D., Hue, H., May, T., Wassoumbou, S., Stenzel, M., Bouillon, M.P., Yazdanpanah, Y., Huleux, T., Aissi, E., Pavel, S., Rey, D., Fischer, P., Blaison, G., Martinot, M., Pachart, A., Jeanblanc, F., Touraine, J.L., Trepo, C., Miailhes, P., Kouadjo, K., Thoirain, V., Brochier, C., Perre, P., Leautez, S., Esnault, J.L., Suaud, I., Seng, Rémonie, Frange, Pierre, Faye, Albert, Dollfus, Catherine, le Chenadec, Jérôme, Boufassa, Faroudy, Essat, Asma, Goetghebuer, Tessa, Arezes, Elisa, Avettand-Fènoël, Véronique, Bigna, Jean-Joël, Blanche, Stéphane, Goujard, Cécile, Meyer, Laurence, Warszawski, Josiane, and Viard, Jean-Paul

Published
2024
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8. Corticosteroids versus clobazam for treatment of children with epileptic encephalopathy with spike-wave activation in sleep (RESCUE ESES): a multicentre randomised controlled trial

Author

Jansen, Anna, Lagae, Lieven, Bast, Thomas, von Spiczak, Sarah, Kluger, Gerhard, van Bogaert, Patrick, Gaily, Eija, Baer, Sarah, Auvin, Stéphane, Chin, Richard, Zuberi, Sameer, Dimova, Petia, Craiu, C Dana, Veggiotti, Pierangelo, Ramantani, Georgia, van Arnhem, Marleen M L, van den Munckhof, Bart, Arzimanoglou, Alexis, Perucca, Emilio, Metsähonkala, Liisa, Rubboli, Guido, Søndergaard Khinchi, Marianne, de Saint-Martin, Anne, Klotz, Kerstin A, Jacobs, Julia, Cross, J Helen, Garcia Morales, Irene, Otte, Wim M, van Teeseling, Heleen C, Leijten, Frans S S, Braun, Kees P J, and Jansen, Floor E

Published
2024
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11. Frequency and predictors for chronic thromboembolic pulmonary hypertension after a first unprovoked pulmonary embolism: Results from PADIS studies

Author

Fauché, Alexandre, Presles, Emilie, Sanchez, Olivier, Jaïs, Xavier, Le Mao, Raphael, Robin, Philippe, Pernod, Gilles, Bertoletti, Laurent, Jego, Patrick, Parent, Florence, Lemarié, Catherine A., Leven, Florent, Le Roux, Pierre‐Yves, Salaun, Pierre‐Yves, Nonent, Michel, Girard, Philippe, Lacut, Karine, Savale, Laurent, Mélac, Solen, Guégan, Marie, Mismetti, Patrick, Laporte, Silvy, Leroyer, Christophe, Montani, David, Couturaud, Francis, Tromeur, Cécile, Meyer, Guy, Duhamel, Elisabeth, Provost, Karine, Mottier, Dominique, Le Hir, Aurélia, Lenoir, Stéphane, Lamer, Christian, Bergmann, Jean François, Wahl, Denis, Drouet, Ludovic, Chevarier, Patrick, Monte, Nicolas, Morvan, Florence, Kouassi, Véronique, Ibrir, Nabahats, El Asri, Gaid, Salaun, Pierre Yves, Le Roux, Pierre Yves, Bressollette, Luc, Quéhé, Philippe, Gestin, Simon, Bahuon, Jérôme, Deloire, Lucille, Planquette, Benjamin, Jobic, Yannick, Etienne, Yves, Didier, Romain, Leroux, Loic, Galinat, Hubert, Le Maréchal, Cédric, Gourhant, Lénaïck, Mingant, Fanny, Lemoigne, Emmanuelle, De Saint Martin, Luc, Delluc, Aurélien, Le Gal, Grégoire, Paleiron, Nicolas, Le Mao, Raphaël, Pison, Christophe, Guéret, Philippe, Décousus, Hervé, and Accassat, Sandrine

Published
2022
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12. Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop’s classification

Author

Agnes Bloch-Zupan, Tristan Rey, Alexandra Jimenez-Armijo, Marzena Kawczynski, Naji Kharouf, O-Rare consortium, Muriel de La Dure-Molla, Emmanuelle Noirrit, Magali Hernandez, Clara Joseph-Beaudin, Serena Lopez, Corinne Tardieu, Béatrice Thivichon-Prince, ERN Cranio Consortium, Tatjana Dostalova, Milan Macek, International Consortium, Mustapha El Alloussi, Leila Qebibo, Supawich Morkmued, Patimaporn Pungchanchaikul, Blanca Urzúa Orellana, Marie-Cécile Manière, Bénédicte Gérard, Isaac Maximiliano Bugueno, Virginie Laugel-Haushalter, Yves Alembik, Victorin Ahossi, Isabelle Bailleul-Forestier, Isabelle Blanchet, Ariane Berdal, Marie José Boileau, Nicolas Chassaing, François Clauss, Caroline Delfosse, Anne De-Saint-Martin, Jean-Christophe Dahlet, Bérénice Doray, Jean-Luc Davideau, Tiphaine Davit-Béal, Hélène Dollfus, Jean-Pierre Duprez, Muriel de La Dure Molla, Klauss Dieterich, Dominique Droz, Salima El Chehadeh, Olivier Etienne, Edouard Euvrard, Laurence Faivre, Benjamin Fournier, Elsa Garot, Bruno Grollemund, Nathalie Guffon-Fouilhoux, Mathilde Huckert, Bertand Isidor, Sophie Jung, Didier Lacombe, Alinoe Lavillaurex, Marine Lebrun, Bruno Leheup, Adeline Loing, Sandrine Marlin, Jean-Jacques Morrier, Michèle Muller-Bolla, Sylvie Odent, Marie Paule Gelle, Juliette Piard, Linda Pons, Béatrice Richard, Massimiliano Rossi, Prune Sadones, Elise Schaefer, Jean-Louis Sixou, Sylvie Soskin, Marion Strub, Annick Toutain, Alain Verloes, Frédéric Vaysse, and Delphine Wagner

Subjects
enamel, amelogenesis imperfecta, genetics, rare diseases, NGS, next-generation sequencing, Physiology, QP1-981
Abstract

Amelogenesis imperfecta (AI) is a heterogeneous group of genetic rare diseases disrupting enamel development (Smith et al., Front Physiol, 2017a, 8, 333). The clinical enamel phenotypes can be described as hypoplastic, hypomineralized or hypomature and serve as a basis, together with the mode of inheritance, to Witkop’s classification (Witkop, J Oral Pathol, 1988, 17, 547–553). AI can be described in isolation or associated with others symptoms in syndromes. Its occurrence was estimated to range from 1/700 to 1/14,000. More than 70 genes have currently been identified as causative.Objectives: We analyzed using next-generation sequencing (NGS) a heterogeneous cohort of AI patients in order to determine the molecular etiology of AI and to improve diagnosis and disease management.Methods: Individuals presenting with so called “isolated” or syndromic AI were enrolled and examined at the Reference Centre for Rare Oral and Dental Diseases (O-Rares) using D4/phenodent protocol (www.phenodent.org). Families gave written informed consents for both phenotyping and molecular analysis and diagnosis using a dedicated NGS panel named GenoDENT. This panel explores currently simultaneously 567 genes. The study is registered under NCT01746121 and NCT02397824 (https://clinicaltrials.gov/).Results: GenoDENT obtained a 60% diagnostic rate. We reported genetics results for 221 persons divided between 115 AI index cases and their 106 associated relatives from a total of 111 families. From this index cohort, 73% were diagnosed with non-syndromic amelogenesis imperfecta and 27% with syndromic amelogenesis imperfecta. Each individual was classified according to the AI phenotype. Type I hypoplastic AI represented 61 individuals (53%), Type II hypomature AI affected 31 individuals (27%), Type III hypomineralized AI was diagnosed in 18 individuals (16%) and Type IV hypoplastic-hypomature AI with taurodontism concerned 5 individuals (4%). We validated the genetic diagnosis, with class 4 (likely pathogenic) or class 5 (pathogenic) variants, for 81% of the cohort, and identified candidate variants (variant of uncertain significance or VUS) for 19% of index cases. Among the 151 sequenced variants, 47 are newly reported and classified as class 4 or 5. The most frequently discovered genotypes were associated with MMP20 and FAM83H for isolated AI. FAM20A and LTBP3 genes were the most frequent genes identified for syndromic AI. Patients negative to the panel were resolved with exome sequencing elucidating for example the gene involved ie ACP4 or digenic inheritance.Conclusion: NGS GenoDENT panel is a validated and cost-efficient technique offering new perspectives to understand underlying molecular mechanisms of AI. Discovering variants in genes involved in syndromic AI (CNNM4, WDR72, FAM20A … ) transformed patient overall care. Unravelling the genetic basis of AI sheds light on Witkop’s AI classification.

Published
2023
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13. The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies

Author

Arnaud, Lionel, Abi Warde, Marie-Thérèse, Barcia, Giulia, de Bellescize, Julitta, Chatron, Nicolas, Faoucher, Marie, de Saint Martin, Anne, Héron, Delphine, Jedraszak, Guillaume, Lacoste, Caroline, Lèbre, Anne-Sophie, Jenneson-Lyver, Mélanie, Labalme, Audrey, Leguern, Eric, Mignot, Cyril, Milh, Mathieu, Nabbout, Rima, Nava, Caroline, Panagiotakaki, Eleni, Piton, Amélie, Schaefer, Elise, Thevenon, Julien, Villard, Laurent, Ville, Dorothée, and Lesca, Gaetan

Published
2022
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14. Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathy

Author

Bar, Claire, Breuillard, Delphine, Kuchenbuch, Mathieu, Jennesson, Mélanie, Le Guyader, Gwenaël, Isnard, Hervé, Rolland, Anne, Doummar, Diane, Fluss, Joel, Afenjar, Alexandra, Berquin, Patrick, De Saint Martin, Anne, Dupont, Sophie, Goldenberg, Alice, Lederer, Damien, Lesca, Gaétan, Maurey, Hélène, Meyer, Pierre, Mignot, Cyril, Nica, Anca, Odent, Sylvie, Poisson, Alice, Scalais, Emmanuel, Sekhara, Tayeb, Vrielynck, Pascal, Barcia, Giulia, and Nabbout, Rima

Published
2022
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15. Frequency and clinical relevance of MOG-antibodies in CSF in pediatric patients with MOG antibody-associated diseases

Author

Galati, G., primary, Pique, J., additional, Horellou, P., additional, Leroy, C., additional, Poinsot, M., additional, Marignier, R., additional, Giorgi, L., additional, Deiva, K., additional, Maillart, Elisabeth, additional, LE MOING, Anne-Gaëlle, additional, Amsalem, Daniel, additional, Villega, Fréderic, additional, PEUDENIER, Sylviane, additional, Nguyen-The Tich, Sylvie, additional, LEPINE, Anne, additional, MEYER, Pierre, additional, VINCENT, Hélène, additional, RENALDO, Florence, additional, AUBART, Melodie, additional, AUVIN, Stéphane, additional, DE SAINT-MARTIN, Anne, additional, CHEURET, Emmanuel, additional, CASTELNAU, Pierre, additional, ROBIN, Stéphanie, additional, RUET, Aurélie, additional, ZEPHIR, Hélène, additional, AUDOIN, Bertrand, additional, AYRIGNAC, Xavier, additional, LAPLAUD, David, additional, COHEN, Mickael, additional, Papeix, Caroline, additional, BOURRE, Bertrand, additional, COLLONGUES, Nicolas, additional, and CIRON, Jonathan, additional

Published
2024
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17. 35 anos depois de 'um encontro entre pesquisadores: Ciências sociais e política no Brasil'

Author

Monique de Saint-Martin

Subjects
Political institutions and public administration (General), JF20-2112, Social sciences (General), H1-99
Abstract

Os dois textos a seguir formam um conjunto. O segundo é um texto escrito por Monique de Saint-Martin após sua participação no Encontro da Anpocs de 1986. Originalmente publicado na Actes de la recherche en sciences sociales, em 1988, agora o publicamos em português pela primeira vez, acompanhado de um ensaio introdutório em que Saint-Martin faz uma análise do texto 35 anos depois.

Published
2022
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18. A propósito de um encontro entre pesquisadores

Author

Monique de Saint-Martin

Subjects
Political institutions and public administration (General), JF20-2112, Social sciences (General), H1-99
Abstract

Tradução do artigo À propos d’une rencontre entre chercheurs, sciences sociales et politique au Brésil, originalmente publicado na Actes de la recherche en sciences sociales, v. 71-72, mars 1988, p. 129-134.

Published
2022
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19. CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients

Author

Le Roux, Marie, Barth, Magalie, Gueden, Sophie, Desbordes de Cepoy, Patrick, Aeby, Alec, Vilain, Catheline, Hirsch, Edouard, de Saint Martin, Anne, Portes, Vincent des, Lesca, Gaëtan, Riquet, Audrey, Chaton, Laurence, Villeneuve, Nathalie, Villard, Laurent, Cances, Claude, Valton, Luc, Renaldo, Florence, Vermersch, Anne-Isabelle, Altuzarra, Cecilia, Nguyen-Morel, Marie-Ange, Van Gils, Julien, Angelini, Chloé, Biraben, Arnaud, Arnaud, Lionel, Riant, Florence, and Van Bogaert, Patrick

Published
2021
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20. CIRAD - 2023 Annual report

Author

Claverie De Saint-Martin, Elisabeth and Claverie De Saint-Martin, Elisabeth

Published
2024

22. Unraveling unmet needs in ketogenic dietary services: An ERN EpiCARE survey.

Author

De Giorgis, Valentina, Pasca, Ludovica, Aznar‐Lain, Gemma, Bibic, Irena, Bibic, Vedrana, Darra, Francesca, Dianin, Alice, Dressler, Anastasia, Jonsson, Henna, Komulainen‐Ebrahim, Jonna, Kverneland, Magnhild, Molteberg, Ellen, Ragona, Francesca, de Saint‐Martin, Anne, Varesio, Costanza, Cross, J. Helen, Baumgartner, Tobias, Bjellvi, Johan, Brunklaus, Andreas, and Buttle, Janette

Subjects
PATIENTS' families, INTERNET surveys, EVERYDAY life, MEDICAL personnel, EPILEPSY
Abstract

The implementation and potential of ketogenic dietary therapies (KDTs) have changed over time. The organization of KDT services, the availability of multidisciplinary teams, resources and support for patients and families still vary widely around the world. This diversity is reflected by a lack of consistency in reported outcomes, optimization of using KDT and KDT compliance. To highlight the unmet needs for KDT services, the ERN EpiCARE Ketogenic Dietary Therapy Special Interest Group (KDT SIG) conducted an online survey on KDT implementation and utilization, addressing the following topics: Use and completeness of guidelines and protocols; assessment of compliance and outcome parameters, sustainability and inclusivity in daily life. Consistently reported unmet needs included the lack of psychological support and resources to measure and improve adherence to KDT, the lack of inclusion strategies, and shared guidelines and protocols adapting to specific needs. Future interventions should focus primarily on educational and informative measures together with creation of shared protocols for complex care. Plain Language Summary: This study provides the results of a survey compiled by clinicians and patients representatives belonging to ERN Epicare, designed to unravel unmet needs from both patients' and healthcare practitioners' perspectives during ketogenic dietary therapies (KDT) provision. Importantly, results show the need to create new shared protocols and guidelines meant for KDT use in complex care situations and to develop future strategies initiatives to support patients improving their social inclusivity. [ABSTRACT FROM AUTHOR]

Published
2024
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24. Exome sequencing in 57 patients with self-limited focal epilepsies of childhood with typical or atypical presentations suggests novel candidate genes

Author

Rudolf, Gabrielle, de Bellescize, Julitta, de Saint Martin, Anne, Arzimanoglou, Alexis, Valenti Hirsch, Maria Paola, Labalme, Audrey, Boulay, Clotilde, Simonet, Thomas, Boland, Anne, Deleuze, Jean François, Nitschké, Patrick, Ollivier, Emmanuelle, Sanlaville, Damien, Hirsch, Edouard, Chelly, Jamel, and Lesca, Gaetan

Published
2020
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29. Efficacité et tolérance de l’association inhibiteurs de calcineurine et JAK-inhibiteurs chez les patients atteints de dermatomyosite anti-MDA5 : étude cas-témoins

Author

Pagis, V., primary, Astouati, Q., additional, Pacoureau, L., additional, Nguyen, Y., additional, Bay, P., additional, Roux, A., additional, Gallay, L., additional, Terrier, B., additional, Meyer, A., additional, Cerf, C., additional, Neuvielle, M., additional, Hervier, B., additional, Suzon, B., additional, Renaud, A., additional, Schleinitz, N., additional, Priou, P., additional, Ullmer, A., additional, Oehler, E., additional, Gensous, N., additional, Berezne, A., additional, De Saint Martin, L., additional, Launay, D., additional, Benveniste, O., additional, Uzunhan, Y., additional, and Allenbach, Y., additional

Published
2023
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30. Corticosteroids versus clobazam for treatment of children with epileptic encephalopathy with spike-wave activation in sleep (RESCUE ESES): a multicentre randomised controlled trial

Author

van Arnhem, Marleen M L, primary, van den Munckhof, Bart, additional, Arzimanoglou, Alexis, additional, Perucca, Emilio, additional, Metsähonkala, Liisa, additional, Rubboli, Guido, additional, Søndergaard Khinchi, Marianne, additional, de Saint-Martin, Anne, additional, Klotz, Kerstin A, additional, Jacobs, Julia, additional, Cross, J Helen, additional, Garcia Morales, Irene, additional, Otte, Wim M, additional, van Teeseling, Heleen C, additional, Leijten, Frans S S, additional, Braun, Kees P J, additional, Jansen, Floor E, additional, Jansen, Anna, additional, Lagae, Lieven, additional, Bast, Thomas, additional, von Spiczak, Sarah, additional, Kluger, Gerhard, additional, van Bogaert, Patrick, additional, Gaily, Eija, additional, Baer, Sarah, additional, Auvin, Stéphane, additional, Chin, Richard, additional, Zuberi, Sameer, additional, Dimova, Petia, additional, Craiu, C Dana, additional, Veggiotti, Pierangelo, additional, and Ramantani, Georgia, additional

Published
2023
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31. Genetic generalized epilepsy and generalized onset seizures with focal evolution (GOFE)

Author

Florian Lamy, Maria-Paola Valenti-Hirsch, Lucas Gauer, Bénédicte Gérard, Mohamed Obeid, Anne de Saint-Martin, Vera Dinkelacker, Sarah Baer, and Edouard Hirsch

Subjects
Generalized onset seizures with focal evolution (GOFE), Generalized onset, Focal evolution, Seizure type, Genetic Generalized Epilepsy (GGE), Idiopathic Generalized Epilepsies (IGEs), Neurology. Diseases of the nervous system, RC346-429, Neurophysiology and neuropsychology, QP351-495
Abstract

“Generalized Onset with Focal Evolution” (GOFE) is an underrecognized seizure type defined by an evolution from generalized onset to focal activity during the same ictal event. We aimed to discuss electroclinical aspects of GOFE and to emphasize its link with Genetic Generalized Epilepsy (GGE).Patients were identified retrospectively over 10 years, using the video-EEG data base from the Epilepsy Unit of Strasbourg University Hospital. GOFE was defined, as previously reported, from an EEG point of view with an evolution from generalized onset to focal activity during the same ictal event.Three male patients with GOFE were identified among 51 patients with recorded tonic-clonic seizures. Ages at onset of seizures were 13, 20 and 22 years. Focal clinical features (motor asymmetric phenomenology) could be identified. EEG showed generalized interictal discharges with focal evolution of various localization. Four seizures were recorded characterized by 2–3 s of generalized abnormalities followed by focal (parieto-occipital or frontal) discharges. There were initially uncontrolled seizures with lamotrigine, but all patients reported a good outcome with valproate monotherapy.We emphasize that GOFE presents many similarities with GGE. Recognition of the GOFE entity could bring a therapeutic interest avoiding misdiagnosis of focal epilepsy and consequently inappropriate use of narrow spectrum anti-seizure medicine.

Published
2022
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32. Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia

Author

Doummar, Diane, Dentel, Christel, Lyautey, Romane, Metreau, Julia, Keren, Boris, Drouot, Nathalie, Malherbe, Ludivine, Bouilleret, Viviane, Courraud, Jérémie, Valenti-Hirsch, Maria Paola, Minotti, Lorella, Dozieres-Puyravel, Blandine, Bär, Séverine, Scholly, Julia, Schaefer, Elise, Nava, Caroline, Wirth, Thomas, Nasser, Hala, de Salins, Marie, de Saint Martin, Anne, Warde, Marie Thérèse Abi, Kahane, Philippe, Hirsch, Edouard, Anheim, Mathieu, Friant, Sylvie, Chelly, Jamel, Mignot, Cyril, and Rudolf, Gabrielle

Published
2020
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33. Ninive, ou l’histoire de Babylonie, d’Assyrie, de Médie et de Perse

Author

De Saint-Martin, Louis V., De Saint-Martin, Louis V., De Saint-Martin, Louis V., and De Saint-Martin, Louis V.

Abstract

L’Orient est la terre des origines ; c’est aussi la terre des vieux souvenirs. C’est dans les chaudes régions de l’Asie que l’humanité a conçu le premier sentiment de sa valeur et de son avenir ; c’est là que l’homme a secoué ses langes et fait ses premiers pas ; c’est là qu’en face d’une nature splendide il a balbutié son premier hymne de reconnaissance et d’amour pour l’ordonnateur inconnu des merveilles de l’Univers. Les contrées de l’Occident étaient plongées encore dans une nuit profonde ; nos premiers ancêtres, et les ancêtres de tous les peuples de l’Europe, les Ibères, les Celtes, les Germains, les Pélasges, erraient inconnus au sein de leurs forêts ; de longs siècles devaient s’écouler avant que la ville de Romulus s’élevât au sein des tribus latines et que la vie des temps héroïques commençât pour les Hellènes, et déjà l’Asie, couverte de villes innombrables, avait vu se former de puissants empires ; de grandes nations s’y montraient dans tout l’éclat d’une civilisation avancée. Dominatrices superbes des pays qu’arrosent l’Euphrate et le Tigre, deux métropoles, Babylone et Ninive, brillaient au premier rang...Ce livre traite de l’histoire des Babyloniens, des Mèdes et des Perses.

Published
2023

34. ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks

Author

Maria W A Teunissen, Elly Lewerissa, Eline J H van Hugte, Shan Wang, Charlotte W Ockeloen, David A Koolen, Rolph Pfundt, Carlo L M Marcelis, Eva Brilstra, Jennifer L Howe, Stephen W Scherer, Xavier Le Guillou, Frédéric Bilan, Michelle Primiano, Jasmin Roohi, Amelie Piton, Anne de Saint Martin, Sarah Baer, Simone Seiffert, Konrad Platzer, Rami Abou Jamra, Steffen Syrbe, Jan H Doering, Shenela Lakhani, Srishti Nangia, Christian Gilissen, R Jeroen Vermeulen, Rob P W Rouhl, Han G Brunner, Marjolein H Willemsen, and Nael Nadif Kasri

Subjects
Ankyrins/genetics, All institutes and research themes of the Radboud University Medical Center, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Axon Initial Segment/metabolism, Induced Pluripotent Stem Cells, Genetics, Neurons/metabolism, Humans, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], General Medicine, Molecular Biology, Genetics (clinical), Epilepsy/genetics
Abstract

Purpose To characterize a novel neurodevelopmental syndrome due to loss-of-function (LoF) variants in Ankyrin 2 (ANK2), and to explore the effects on neuronal network dynamics and homeostatic plasticity in human-induced pluripotent stem cell-derived neurons. Methods We collected clinical and molecular data of 12 individuals with heterozygous de novo LoF variants in ANK2. We generated a heterozygous LoF allele of ANK2 using CRISPR/Cas9 in human-induced pluripotent stem cells (hiPSCs). HiPSCs were differentiated into excitatory neurons, and we measured their spontaneous electrophysiological responses using micro-electrode arrays (MEAs). We also characterized their somatodendritic morphology and axon initial segment (AIS) structure and plasticity. Results We found a broad neurodevelopmental disorder (NDD), comprising intellectual disability, autism spectrum disorders and early onset epilepsy. Using MEAs, we found that hiPSC-derived neurons with heterozygous LoF of ANK2 show a hyperactive and desynchronized neuronal network. ANK2-deficient neurons also showed increased somatodendritic structures and altered AIS structure of which its plasticity is impaired upon activity-dependent modulation. Conclusions Phenotypic characterization of patients with de novo ANK2 LoF variants defines a novel NDD with early onset epilepsy. Our functional in vitro data of ANK2-deficient human neurons show a specific neuronal phenotype in which reduced ANKB expression leads to hyperactive and desynchronized neuronal network activity, increased somatodendritic complexity and AIS structure and impaired activity-dependent plasticity of the AIS.

Published
2023

36. Evaluation of the predictive value of the bleeding prediction score VTE‐BLEED for recurrent venous thromboembolism

Author

Klok, Frederikus A., Presles, Emilie, Tromeur, Cecile, Barco, Stefano, Konstantinides, Stavros V., Sanchez, Olivier, Pernod, Gilles, Raj, Leela, Robin, Philippe, Le Roux, Pierre‐Yves, Hoffman, Clément, Mélac, Solen, Bertoletti, Laurent, Girard, Philippe, Laporte, Silvy, Mismetti, Patrick, Meyer, Guy, Leroyer, Christophe, Couturaud, Francis, Jego, P., Duhamel, E., Provost, K., Parent, F., Mottier, D., Guégan, M., Le Hir, A., Lenoir, S., Lamer, C., Bergmann, J.F., Wahl, D., Drouet, L., Chevarier, P., Monte, N., Morvan, F., Kouassi, V., Ibrir, N., El Asri, G., Salaun, P.Y., Bressollette, L., Quéhé, P., Gestin, S., Nonent, M., Bahuon, J., Deloire, L., Planquette, B., Jobic, Y., Etienne, Y., Didier, R., Leven, F., Leroux, L., Galinat, H., Le Maréchal, C., Gourhant, L., Mingant, F., Lacut, K., Lemoigne, E., De Saint Martin, L., Delluc, A., Le Gal, G., Paleiron, N., Le Mao, R., Pison, C., Guéret, P., Décousus, H., Lassagne, C., Pan‐Petesh, B., Bura‐Riviere, A., Delahousse, B., Gruel, Y., Lorut, C., Schmidt, J., and Connault, J.

Published
2019
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38. Phosphatidylserine enriched with polyunsaturated n‐3 fatty acid supplementation for attention‐deficit hyperactivity disorder in children and adolescents with epilepsy: A randomized placebo‐controlled trial.

Author

Rheims, Sylvain, Herbillon, Vania, Gaillard, Ségolène, Mercier, Catherine, Villeuve, Nathalie, Villéga, Frédéric, Cances, Claude, Castelnau, Pierre, Napuri, Silvia, de Saint‐Martin, Anne, Auvin, Stéphane, Nguyen The Tich, Sylvie, Berquin, Patrick, de Bellecize, Julitta, Milh, Mathieu, Roy, Pascal, Arzimanoglou, Alexis, Bodennec, Jacques, Bezin, Laurent, and Kassai, Behrouz

Abstract

Background: Attention‐deficit hyperactivity disorder (ADHD) is a frequent comorbidity in children with epilepsy, which management mostly relies on the usual treatments of ADHD, especially methylphenidate. Supplementation with polyunsaturated n‐3 Fatty Acid (PUFA) has been proposed as an alternative therapeutic approach in ADHD without epilepsy but has never been evaluated in epilepsy‐associated ADHD. Methods: A multicenter double blind randomized placebo‐controlled trial evaluating supplementation with PUFA, in eicosapentaenoic‐ and docosahexaenoic‐acid form, conjugated to a phospholipid vector (PS‐Omega3) in children aged >6 and <16‐years old, and suffering from any type of epilepsy and ADHD (inattentive or combined type) according to DSM‐V. After a 4‐week baseline period, patients were allocated (1:1) either to placebo group or to PS‐Omega 3 group and entered a 12 week‐double‐blind treatment period which was followed by a 12 week‐open‐label treatment period. The primary outcome was the reduction of the ADHD‐rating scale IV attention‐deficit subscore after 12 weeks of treatment. Results: The study was stopped early because of lack of eligible participants and the expected sample size was not reached. Seventy‐four patients were randomized, 44 in PS‐Omega3, and 30 in the placebo group. The reduction after 12 weeks of treatment in the inattention subscore of the ADHD‐IV scale was −1.57 in the PS‐Omega3 group, and −2.90 in the placebo group (p = 0.33, α = 5%). Results were similar after 24 weeks of treatment and for all other ADHD‐related secondary outcomes, with no difference between placebo and PS‐Omega3. Conclusion: Our study remaining underpowered, no formal conclusion about the effect of Ps‐Omega3 could be drawn. However, our data strongly suggested that the PS‐Omega 3 formulation used in the current study did not improve ADHD symptoms in children with epilepsy. Plain Language Summary: Supplementation with polyunsaturated n‐3 Fatty Acid (PUFA) has been proposed in ADHD but has never been evaluated in patients with both epilepsy and ADHD. To address this issue, we conducted a multicenter double blind randomized placebo‐controlled trial evaluating supplementation with PUFA in children with epilepsy and ADHD. The study was stopped early because of lack of eligible participants, hampering formal conclusion. However, the evolution of the ADHD symptoms at 12 and 24 weeks did not differ between placebo and PUFA supplementation, strongly suggesting that PUFA did not improve ADHD symptoms in children with epilepsy. [ABSTRACT FROM AUTHOR]

Published
2024
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40. Real-life data comparing the efficacy of vigabatrin and oral steroids given sequentially or combined for infantile epileptic spasms syndrome

Author

Dozieres-Puyravel, Blandine, primary, Nasser, Hala, additional, Mauvais, François-Xavier, additional, De Saint Martin, Anne, additional, Perriard, Caroline, additional, Di Meglio, Chloé, additional, Cances, Claude, additional, Hachon-LE Camus, Caroline, additional, Milh, Mathieu, additional, and Auvin, Stéphane, additional

Published
2023
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44. The landscape of epilepsy-related GATOR1 variants

Author

Baldassari, Sara, Picard, Fabienne, Verbeek, Nienke E., van Kempen, Marjan, Brilstra, Eva H., Lesca, Gaetan, Conti, Valerio, Guerrini, Renzo, Bisulli, Francesca, Licchetta, Laura, Pippucci, Tommaso, Tinuper, Paolo, Hirsch, Edouard, de Saint Martin, Anne, Chelly, Jamel, Rudolf, Gabrielle, Chipaux, Mathilde, Ferrand-Sorbets, Sarah, Dorfmüller, Georg, Sisodiya, Sanjay, Balestrini, Simona, Schoeler, Natasha, Hernandez-Hernandez, Laura, Krithika, S., Oegema, Renske, Hagebeuk, Eveline, Gunning, Boudewijn, Deckers, Charles, Berghuis, Bianca, Wegner, Ilse, Niks, Erik, Jansen, Floor E., Braun, Kees, de Jong, Daniëlle, Rubboli, Guido, Talvik, Inga, Sander, Valentin, Uldall, Peter, Jacquemont, Marie-Line, Nava, Caroline, Leguern, Eric, Julia, Sophie, Gambardella, Antonio, d’Orsi, Giuseppe, Crichiutti, Giovanni, Faivre, Laurence, Darmency, Veronique, Benova, Barbora, Krsek, Pavel, Biraben, Arnaud, Lebre, Anne-Sophie, Jennesson, Mélanie, Sattar, Shifteh, Marchal, Cécile, Nordli, Jr, Douglas R, Lindstrom, Kristin, Striano, Pasquale, Lomax, Lysa Boissé, Kiss, Courtney, Bartolomei, Fabrice, Lepine, Anne Fabienne, Schoonjans, An-Sofie, Stouffs, Katrien, Jansen, Anna, Panagiotakaki, Eleni, Ricard-Mousnier, Brigitte, Thevenon, Julien, de Bellescize, Julitta, Catenoix, Hélène, Dorn, Thomas, Zenker, Martin, Müller-Schlüter, Karen, Brandt, Christian, Krey, Ilona, Polster, Tilman, Wolff, Markus, Balci, Meral, Rostasy, Kevin, Achaz, Guillaume, Zacher, Pia, Becher, Thomas, Cloppenborg, Thomas, Yuskaitis, Christopher J., Weckhuysen, Sarah, Poduri, Annapurna, Lemke, Johannes R., Møller, Rikke S., and Baulac, Stéphanie

Published
2019
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45. Putative founder effect of Arg338* <scp> AP4M1 </scp> ( <scp>SPG50</scp> ) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families

Author

Aurélie Becker, Charlotte Felici, Laëtitia Lambert, Anne de Saint Martin, Marie‐Thérèse Abi‐Warde, Elise Schaefer, Christian Zix, Mina Zamani, Saeid Sadeghian, Jawaher Zeighami, Tahereh Seifi, Reza Azizimalamiri, Gholamreza Shariati, Hamid Galehdari, Mareike Selig, Can Ding, Sarah Duerinckx, Isabelle Pirson, Marc Abramowicz, Guillemette Clément, Bruno Leheup, Philippe Jonveaux, Geneviève Lefort, Myriam Bronner, Mathilde Renaud, and Céline Bonnet

Subjects
Genetics, Genetics (clinical)
Abstract

Bi-allelic variants affecting one of the four genes encoding the AP4 subunits are responsible for the "AP4 deficiency syndrome." Core features include hypotonia that progresses to hypertonia and spastic paraplegia, intellectual disability, postnatal microcephaly, epilepsy, and neuroimaging features. Namely, AP4M1 (SPG50) is involved in autosomal recessive spastic paraplegia 50 (MIM#612936). We report on three patients with core features from three unrelated consanguineous families originating from the Middle East. Exome sequencing identified the same homozygous nonsense variant: NM_004722.4(AP4M1):c.1012CT p.Arg338* (rs146262009). So far, four patients from three other families carrying this homozygous variant have been reported worldwide. We describe their phenotype and compare it to the phenotype of patients with other variants in AP4M1. We construct a shared single-nucleotide polymorphism (SNP) haplotype around AP4M1 in four families and suggest a probable founder effect of Arg338* AP4M1 variant with a common ancestor most likely of Turkish origin.

Published
2022

46. Slow Titration of Cannabidiol Add-On in Drug-Resistant Epilepsies Can Improve Safety With Maintained Efficacy in an Open-Label Study

Author

Gianluca D'Onofrio, Mathieu Kuchenbuch, Caroline Hachon-Le Camus, Béatrice Desnous, Véronique Staath, Sylvia Napuri, Dorothée Ville, Jean-Michel Pedespan, Anne Lépine, Claude Cances, Anne de Saint-Martin, Théo Teng, Nicole Chemaly, Mathieu Milh, Nathalie Villeneuve, and Rima Nabbout

Subjects
Dravet, Lennox-Gastaut, adverse events, liver function, tolerability, drug resistant, Neurology. Diseases of the nervous system, RC346-429
Abstract

Objective: To assess adverse events (AEs) and efficacy of add-on cannabidiol (CBD) with a slower titration protocol in pediatric clinical practice.Methods: We conducted a prospective, open-label, multicenter study in seven French reference centers for rare epilepsies. Patients had slow titration to reach a target dose of 10 mg/kg/day within at least 1 month and then gradually increased to a maximum dose of 20 mg/kg/day. We analyzed AEs and efficacy at M1 (month 1), M2, and M6, comparing two sets of subgroups: Dravet syndrome (DS) vs. Lennox-Gastaut (LGS) and patients with clobazam (CLB+) vs. patients without (CLB−).Results: One hundred and twenty-five patients were enrolled (62 LGS, 48 DS, 5 Tuberous sclerosis, and 10 other etiologies). Median concomitant antiepileptic drugs (AEDs) was three (25th percentile: 3, 75th percentile: 4). Patients received a dose of 10 (10–12), 14 (10–20), and 15.5 mg/kg/day (10–20) at M1, M2, and M6, respectively. Twenty-six patients discontinued CBD, 19 due to lack of efficacy, 2 due to AEs, 4 for both, and 1 had a sudden unexpected death in epilepsy. AEs were reported in 61 patients (48.8%), mainly somnolence (n = 26), asthenia (n = 20), and behavior disorders (n = 16). Abnormal transaminases (≥3 times) were reported in 11 patients receiving both valproate and clobazam. AEs were significantly higher at M2 (p = 0.03) and increased with the number of AEDs (p = 0.03). At M6, total seizure frequency change from baseline was −41% ± 37.5% (mean ± standard deviation), and 28 patients (37.8%) had a reduction ≥50%. AE and efficacy did not differ between DS vs. LGS and CLB+ vs. CLB– patients.Significance: A slower titration of CBD dose delivered better tolerance with comparable efficacy to previous trials. Concomitant CLB did not increase efficacy rates but in a few cases increased AEs. This slow titration scheme should help guide clinicians prescribing CBD and allow patients to benefit from its potential efficacy.

Published
2020
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47. Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND): New Findings on Age, Sex, and Genotype in Relation to Intellectual Phenotype

Author

Petrus J. de Vries, Elena Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D'Amato, Guillaume Beaure d'Augères, José C. Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, John A. Lawson, Alfons Macaya, Ruben Marques, Rima Nabbout, Finbar O'Callaghan, Jiong Qin, Valentin Sander, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, John C. Kingswood, Anna C. Jansen, Nobuo Shinohara, Shigeo Horie, Masaya Kubota, Jun Tohyama, Katsumi Imai, Mari Kaneda, Hideo Kaneko, Yasushi Uchida, Tomoko Kirino, Shoichi Endo, Yoshikazu Inoue, Katsuhisa Uruno, Ayse Serdaroglu, Zuhal Yapici, Banu Anlar, Sakir Altunbasak, Olga Lvova, Oleg Valeryevich Belyaev, Oleg Agranovich, Elena Vladislavovna Levitina, Yulia Vladimirovna Maksimova, Antonina Karas, Yuwu Jiang, Liping Zou, Kaifeng Xu, Yushi Zhang, Guoming Luan, Yuqin Zhang, Yi Wang, Meiling Jin, Dingwei Ye, Weiping Liao, Liemin Zhou, Jie Liu, Jianxiang Liao, Bo Yan, Yanchun Deng, Li Jiang, Zhisheng Liu, Shaoping Huang, Hua Li, Kijoong Kim, Pei-Lung Chen, Hsiu-Fen Lee, Jeng-Dau Tsai, Ching-Shiang Chi, Chao-Ching Huang, Kate Riney, Deborah Yates, Patrick Kwan, Surachai Likasitwattanakul, Charcrin Nabangchang, Lunliya Thampratankul Krisnachai Chomtho, Kamornwan Katanyuwong, Somjit Sriudomkajorn, Jo Wilmshurst, Reeval Segel, Tal Gilboa, Michal Tzadok, Aviva Fattal-Valevski, Panagiotis Papathanasopoulos, Antigone Syrigou Papavasiliou, Stylianos Giannakodimos, Stylianos Gatzonis, Evangelos Pavlou, Meropi Tzoufi, A. M. H. Vergeer, Marc Dhooghe, Hélène Verhelst, Filip Roelens, Marie Cecile Nassogne, Pierre Defresne, Liesbeth De Waele, Patricia Leroy, Nathalie Demonceau, Benjamin Legros, Patrick Van Bogaert, Berten Ceulemans, Lina Dom, Pierre Castelnau, Anne De Saint Martin, Audrey Riquet, Mathieu Milh, Claude Cances, Jean-Michel Pedespan, Dorothee Ville, Agathe Roubertie, Stéphane Auvin, Patrick Berquin, Christian Richelme, Catherine Allaire, Sophie Gueden, Sylvie Nguyen The Tich, Bertrand Godet, Maria Luz Ruiz Falco Rojas, Jaume Campistol Planas, Antonio Martinez Bermejo, Patricia Smeyers Dura, Susana Roldan Aparicio, Maria Jesus Martinez Gonzalez, Javier Lopez Pison, Manuel Oscar Blanco Barca, Eduardo Lopez Laso, Olga Alonso Luengo, Francisco Javier Aguirre Rodriguez, Ignacio Malaga Dieguez, Ana Camacho Salas, Itxaso Marti Carrera, Eduardo Martinez Salcedo, Maria Eugenia Yoldi Petri, Ramon Cancho Candela, Ines da Conceicao Carrilho, Jose Pedro Vieira, José Paulo da Silva Oliveira Monteiro, Miguel Jorge Santos de Oliveira Ferreira Leao, Catarina Sofia Marceano Ribeiro Luis, Carla Pires Mendonca, Milda Endziniene, Jurgis Strautmanis, Inga Talvik, Maria Paola Canevini, Antonio Gambardella, Dario Pruna, Salvatore Buono, Elena Fontana, Bernardo Dalla Bernardina, Carmen Burloiu, Iuliu Stefan Bacos Cosma, Mihaela Adela Vintan, Laura Popescu, Karel Zitterbart, Jaroslava Payerova, Ladislav Bratsky, Zuzana Zilinska, Ursula Gruber-Sedlmayr, Matthias Baumann, Edda Haberlandt, Kevin Rostasy, Ekaterina Pataraia, Frances Elmslie, Clare Ann Johnston, Pamela Crawford, Peter Uldall, Paul Uvebrant, Olof Rask, Marit Bjoernvold, Eylert Brodtkorb, Andreas Sloerdahl, Ragnar Solhoff, Martine Sofie Gilje Jaatun, Marek Mandera, Elzbieta Janina Radzikowska, Mariusz Wysocki, Michael Fischereder, Gerhard Kurlemann, Bernd Wilken, Adelheid Wiemer-Kruel, Klemens Budde, Klaus Marquard, Markus Knuf, Andreas Hahn, Hans Hartmann, Andreas Merkenschlager, and Regina Trollmann

Subjects
intelligence quotient, tuberous sclerosis complex, TSC-associated neuropsychiatric disorders, TOSCA, TAND profile, Neurology. Diseases of the nervous system, RC346-429
Abstract

Background: Knowledge is increasing about TSC-Associated Neuropsychiatric Disorders (TAND), but little is known about the potentially confounding effects of intellectual ability (IA) on the rates of TAND across age, sex, and genotype. We evaluated TAND in (a) children vs. adults, (b) males vs. females, and (c) TSC1 vs. TSC2 mutations, after stratification for levels of IA, in a large, international cohort.Methods: Individuals of any age with a documented visit for TSC in the 12 months prior to enrolment were included. Frequency and percentages of baseline TAND manifestations were presented by categories of IA (no intellectual disability [ID, intelligence quotient (IQ)>70]; mild ID [IQ 50–70]; moderate-to-profound ID [IQ

Published
2020
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48. Extra-haematological manifestations related to human parvovirus B19 infection: retrospective study in 25 adults

Author

Marion Dollat, Benjamin Chaigne, Grégoire Cormier, Nathalie Costedoat-Chalumeau, François Lifermann, Alban Deroux, Emilie Berthoux, Emmanuelle Dernis, Thomas Sené, Gilles Blaison, Olivier Lambotte, Benjamin Terrier, Jérémie Sellam, Luc De Saint-Martin, Laurent Chiche, Nicolas Dupin, and Luc Mouthon

Subjects
Human parvovirus B19, Arthritis, Vasculitis, Glomerulonephritis, Peripheral neuropathy, Intravenous immunoglobulin, lupus, Infectious and parasitic diseases, RC109-216
Abstract

Abstract Background To describe extra-haematological manifestations associated with human parvovirus B19 (HPV-B19) infection. Methods We conducted a nationwide multicentre study to retrospectively describe the characteristics and outcome of extra-haematological manifestations in French adults. Results Data from 25 patients followed from 2001 to 2016 were analysed. Median age was 37.9 years (range: 22.7–83.4), with a female predominance (sex ratio: 4/1). Only 3 patients had an underlying predisposing condition (hemoglobinopathy or pregnancy). The most common manifestations were joint (80%) and skin (60%) involvement. Four patients (16%) had renal involvement (endocapillary proliferative or membranoproliferative glomerulonephritis, focal segmental glomerulosclerosis). Three patients (12%) had peripheral nervous system involvement (mononeuritis, mononeuritis multiplex, Guillain-Barré syndrome) and 2 (8%) presented muscle involvement. Other manifestations included hemophagocytic lymphohistiocytosis (n = 1), myopericarditis and pleural effusion (n = 1), and lymphadenopathy and splenomegaly mimicking lymphoma with spleen infarcts (n = 1). Immunological abnormalities were frequent (56.5%). At 6 months, all patients were alive, and 54.2% were in complete remission. In 2 patients, joint involvement evolved into rheumatoid arthritis. Six patients (24%) received intravenous immunoglobulin (IVIg), with a good response in the 3 patients with peripheral nervous system involvement. Conclusions HPV-B19 infection should be considered in a wide range of clinical manifestations. Although the prognosis is good, IVIg therapy should be discussed in patients with peripheral nerve involvement. However, its efficacy should be further investigated in prospective studies.

Published
2018
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