Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Giovanni, Foletti"'
Autor:
Beryl Royer-Bertrand, Jean-Marc Good, Vincent Guinchat, Giovanni Foletti, Andrea Superti-Furga, Christel Tran, Katarina Cisarova, Florence Niel Bütschi
Publikováno v:
American journal of medical genetics. Part A, vol. 185, no. 8, pp. 2602-2606
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1254beccea936b7e0e243a4975d1f318
https://doi.org/10.1002/ajmg.a.62343
https://doi.org/10.1002/ajmg.a.62343
Publikováno v:
Molecular Syndromology. 6:91-95
Coffin-Lowry syndrome (CLS) is a rare neurodevelopmental condition caused by heterogeneous mutations in the RPS6KA3 gene on the X chromosome, leading to severe intellectual disability and dysmorphism in men, while women are carriers and only weakly a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb51c0bdb902a5e18a7ea27e930344fc
https://doi.org/10.1159/000430429
https://doi.org/10.1159/000430429
Autor:
Giovanni Foletti, Claudio Pollo, Margitta Seeck, Serge Vulliemoz, Percy Bondallaz, Colette Boex, Laurent Spinelli, Andrea O. Rossetti
Publikováno v:
Seizure, Vol. 22, No 5 (2013) pp. 390-395
PurposeTo study the clinical outcome in hippocampal deep brain stimulation (DBS) for the treatment of patients with refractory mesial temporal lobe epilepsy (MTLE) according to the electrode location.MethodsEight MTLE patients implanted in the hippoc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55ff0f31302ec3ec963ad2e4f34353cb
https://doi.org/10.1016/j.seizure.2013.02.007
https://doi.org/10.1016/j.seizure.2013.02.007
Publikováno v:
Epileptic disorders : international epilepsy journal with videotape. 18(1)
Lennox-Gastaut syndrome (LGS) is characterized by interictal epileptiform discharges (IEDs) occurring during sleep. The aim of this study was to determine whether sleep influences not only the frequency of seizures and IEDs, but also the time-depende
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a37b6a9d0b6b311c6699f0a1db36739
https://pubmed.ncbi.nlm.nih.gov/26842220
https://pubmed.ncbi.nlm.nih.gov/26842220
Autor:
Bertrand de Toffol, Bjarke á Rogvi-Hansen, Martine Lemesle-Martin, Giovanni Foletti, Mathieu Milh, Pierre Genton, Emmanuel Raffo, Louis Maillard, Philippe Ryvlin, Gabrielle Rudolf, Gaetan Lesca, Josette Mancini, Christel Thauvin-Robinet, Alain Calender, Nadia Boutry-Kryza, Dominique Steschenko, Pierre Szepetowski, Edouard Hirsch, Jesper Erdal, Amel M’Rrabet, Dorothée Ville, Jørgen E. Nielsen
Publikováno v:
Epilepsia. 51:1691-1698
Summary Purpose: Lafora disease (LD) is an autosomal recessive form of progressive myoclonus epilepsy with onset in childhood or adolescence and with fatal outcome caused by mutations in two genes: EPM2A and NHLRC1. The aim of this study was to chara
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::676969465001cf7eafbe0bc778c2a158
https://doi.org/10.1111/j.1528-1167.2010.02692.x
https://doi.org/10.1111/j.1528-1167.2010.02692.x
Autor:
Bum-Chun Suh, Eugene Lee, R. Koerfer, Paul-André Despland, Patrik Michel, François-Xavier Borruat, Giovanni Foletti, Stauros Koussoulakos, H. Griese, Hagen B. Huttner, Theodor Landis, Aki Kawasaki, Peter D. Schellinger, Valeria Caso, Heui-Soo Moon, P. Jallon, Fabienne Picard, Martin Köhrmann, Jong S. Kim, Maurizio Paciaroni, Stefan Schwab, Tim Nowe, Philippe Maeder, Kwang-Yeol Park, M. Seeck, Young-Su Han, Pil-Wook Chung, D. Rentsch, Yong Bum Kim, Giancarlo Agnelli, Francesca Sperli, D. Seifert
Publikováno v:
European Neurology. 61:I-IV
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c642882bb3ff838b40b48a0f8819399f
https://doi.org/10.1159/000218854
https://doi.org/10.1159/000218854
Autor:
Alan J. Pegna, Andrea O. Rossetti, Claudio Pollo, Giovanni Foletti, Serge Vulliemoz, J. G. Villemure, Laurent Spinelli, Margitta Seeck, Colette Boex, Etienne Pralong, Claudio Staedler
Publikováno v:
Seizure, Vol. 20, No 6 (2011) pp. 485-90
Seizure : the journal of the British Epilepsy Association
Seizure
Seizure : the journal of the British Epilepsy Association
Seizure
The objective of this study was to evaluate the efficiency and the effects of changes in parameters of chronic amygdala–hippocampal deep brain stimulation (AH-DBS) in mesial temporal lobe epilepsy (TLE).Eight pharmacoresistant patients, not candida
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bdd0f464382cbbf977926d9f360d069d
https://archive-ouverte.unige.ch/unige:54934
https://archive-ouverte.unige.ch/unige:54934
Autor:
Gaetan, Lesca, Nadia, Boutry-Kryza, Bertrand, de Toffol, Mathieu, Milh, Dominique, Steschenko, Martine, Lemesle-Martin, Louis, Maillard, Giovanni, Foletti, Gabrielle, Rudolf, Jørgen Erik, Nielsen, Bjarke, á Rogvi-Hansen, Jesper, Erdal, Josette, Mancini, Christel, Thauvin-Robinet, Amel, M'Rrabet, Dorothée, Ville, Pierre, Szepetowski, Emmanuel, Raffo, Edouard, Hirsch, Philippe, Ryvlin, Alain, Calender, Pierre, Genton
Publikováno v:
Epilepsia. 51(9)
Lafora disease (LD) is an autosomal recessive form of progressive myoclonus epilepsy with onset in childhood or adolescence and with fatal outcome caused by mutations in two genes: EPM2A and NHLRC1. The aim of this study was to characterize the mutat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a3375ea57d58f2d7976c24b6ba949b66
https://pubmed.ncbi.nlm.nih.gov/20738377
https://pubmed.ncbi.nlm.nih.gov/20738377
Publikováno v:
Epileptic disorders : international epilepsy journal with videotape. 12(3)
Cortical dysgenesis is increasingly recognised as a cause of epilepsy. We report a case with double cortex heterotopia and secondarily generalized seizures with a generalised spike wave pattern. During the course of the disease, the child developed e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc3d102b8b33a014e842d67af6f87aed
https://pubmed.ncbi.nlm.nih.gov/20643613
https://pubmed.ncbi.nlm.nih.gov/20643613
Autor:
Francesca Sperli, Margitta Seeck, Fabienne Picard, Theodor Landis, Paul-André Despland, P. Jallon, Giovanni Foletti, Denis Rentsch
Publikováno v:
European Neurology, Vol. 61, No 6 (2009) pp. 350-357
Introduction: Psychiatric disorders are known to occur frequently in chronic epilepsy. The aim of this study is to investigate the prevalence of psychiatric comorbidity and its relationship to regional cerebral dysfunction in patients admitted to a t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac000877b7db6d090367f959ef449e0a
https://archive-ouverte.unige.ch/unige:20114
https://archive-ouverte.unige.ch/unige:20114