The importance of acknowledging diagnostic uncertainty in patients with new-onset paroxysmal spells

Autor: Wassim Nasreddine, Jaafar Wazne, Hassan Toufaili, Tarek El Halabi, Ghassan Hmaimess, Maya Dirani, Dana Hasbini, Ahmad Beydoun, Sandra El Sabbagh

Publikováno v: Epilepsia Open
Epilepsia Open, Vol 6, Iss 4, Pp 727-735 (2021)

Objective The aims of this study were to evaluate the frequency of paroxysmal spells of indeterminate nature (PSIN) in a large cohort of children and adults with suspected new‐onset seizures, to evaluate the reasons for including patients in this c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::589a1f6750be50ec42e150e52c11785c
https://pubmed.ncbi.nlm.nih.gov/34596366

Dravet Syndrome in Lebanon: First Report on Cases with SCN1A Mutations

Autor: Sandra El Sabbagh, Dana Hasbini, André Mégarbané, Saada Alame, Anne Celine Gillart, Ali Fawaz, Christel Depienne, Eliane El-Houwayek, Caroline Nava

Publikováno v: Case Reports in Medicine, 2019
Case reports in Medicine
Case reports in Medicine, Hindawi Publishing Corporation, 2019, 2019, pp.5270503. ⟨10.1155/2019/5270503⟩
Case reports in Medicine, 2019, 2019, pp.5270503. ⟨10.1155/2019/5270503⟩
Case Reports in Medicine, Vol 2019 (2019)
Case Reports in Medicine

Dravet syndrome, also known as severe myoclonic epilepsy in infancy, is a rare disease characterized by the appearance of different types of seizures in a healthy baby, triggered by various factors and stressful events. We report 8 Lebanese cases ref

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1ff366cb376581c47455ae3ad80de92
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/284877

Myoclonic absence epilepsy with photosensitivity and a gain of function mutation in glutamate dehydrogenase

Autor: Pascale de Lonlay, Christine Soufflet, Perrine Plouin, Christine Bellane-Chantelot, Vassili Valayannopoulos, Nathalie Boddaert, Karine Lascelles, Sandra El Sabbagh, Nadia Bahi-Buisson, Fabienne Escande, Olivier Dulac

Publikováno v: Seizure. 17:658-664

SummaryActivating mutations in glutamate dehydrogenase (GDH), de novo or dominantly inherited, are responsible for the hyperinsulinism/hyperammonemia (HI/HA) syndrome. Epilepsy has been frequently reported in association with mutations in GDH, but th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::980f89d7899b7ef6f4cac5c4bab10e74
https://doi.org/10.1016/j.seizure.2008.01.005

Liste des collaborateurs

Autor: Nelly, Achour-Frydman, Olivier, Ami, Françoise, Aubron, Magalie, Barth, Delphine, Beghin, Claire, Bélanger, Alexandra, Benachi, Bernard, Benoit, Guillaume, Benoist, Florence, Biquard, Dominique, Bonneau, Claude, Bouderlique, Pierre-Emmanuel, Bouet, Françoise, Boussion, Yves, Brossard, Anne-Sophie, Cabaret, Bruno, Carbonne, Vanina, Castaigne, Gihad, Chalouhi, Paul, Chatel, Bernard, Cimon, Anne-Gaël, Cordier, Valérie, Cormier-Daire, Anne, Cortey, Marie-Pierre, Cournot, Évelyne, Cynober, Albert, David, Jocelyne, De Laveau-Coupet, Benoît, Delorme, Philippe, Descamps, Alain, Diguet, Julia, Dina, Marc, Dommergues, Guillaume, Ducarme, Céline, Dupont-Bernabé, Philippe, Duverger, Sandra, El Sabbagh, Élisabeth, Elefant, René, Frydman, Philippe, Gillard, Stéphanie, Gouarin, Liliane, Grangeot-Keros, Agnès, Guichet, Martine, Hérault, Michel, Herlicoviez, Véronique, Houfflin-Debarge, Bertrand, Isidor, François, Kotras, Marc, Larsen, Cédric, Le Caignec, Martine, Le Merrer, Magali, Leblanc, Marc-David, Leclair, Céline, Lefebvre-Lacœuille, Catherine, Lépinard, Ronaldo, Levy, Didier, Loisel, Dominique, Luton, Laurent, Macchi, Agnès, Mailloux, Laurent, Mandelbrot, Sylvie, Manouvrier-Hanu, Anne-Élisabeth, Mas, Marie-Caroline, Mas-Caradec, Matthieu, Mezzadri, Daniel, Moeglin, Jean-Marc, Mouillie, Isabelle, Ollivier, Sophie, Patrier, Philippe, Pézard, Olivier, Picone, Fabrice, Pierre, Brigitte, Porcheron, Patrice, Poulain, Thierry, Rousseau, Paul, Sagot, Mariane, Saidi, Loïc, Sentilhes, Stéphane, Triau, Christelle, Vauloup-Fellous, Catherine, Vauzelle, Éric, Verspyck, Benjamin, Viaris De Lesegno, Yves, Ville, Edith, Vuillard, Dominique, Weil, Norbert, Winer

Publikováno v: In Le diagnostic prénatal en pratique:v-ix