المؤلفون: Panagiotakaki, Eleni, Tiziano, Francesco D, Mikati, Mohamad A, Vijfhuizen, Lisanne S, Nicole, Sophie, Lesca, Gaetan, Abiusi, Emanuela, Novelli, Agnese, Di Pietro, Lorena, I.B.AHC Consortium, IAHCRC Consortium, Harder, Aster V E, Walley, Nicole M, De Grandis, Elisa, Poulat, Anne-Lise, Portes, Vincent Des, Lépine, Anne, Nassogne, Marie-Cécile, Arzimanoglou, Alexis, Vavassori, Rosaria, Koenderink, Jan, Thompson, Christopher H, George, Alfred L, Gurrieri, Fiorella, van den Maagdenberg, Arn M J M, Heinzen, Erin L

المساهمون: UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie pédiatrique

المصدر: European journal of human genetics, Vol. 32, no.2, p. 224-231 (2024)

مصطلحات موضوعية: Humans, Hemiplegia, Exome Sequencing, Mutation, Missense, Sodium-Potassium-Exchanging ATPase, GTP-Binding Proteins, Tumor Suppressor Proteins, NAV1.2 Voltage-Gated Sodium Channel

العلاقة: boreal:289581; http://hdl.handle.net/2078.1/289581Test; info:pmid/38097767; urn:ISSN:1018-4813; urn:EISSN:1476-5438

الإتاحة: https://doi.org/10.1038/s41431-023-01489-4Test
http://hdl.handle.net/2078.1/289581Test

المؤلفون: van Arnhem, Marleen ML, 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 SS, Braun, Kees PJ, Jansen, Floor E, RESCUE ESES, study group

المصدر: The Lancet Neurology , 23 (2) pp. 147-156. (2024)

مصطلحات موضوعية: Child, Humans, Adrenal Cortex Hormones, Clobazam, Epilepsy, Generalized, Methylprednisolone, Retrospective Studies, Preschool

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10189297/2/Cross_Corticosteroids%20versus%20clobazam%20for%20treatment%20of%20children%20with%20epileptic%20encephalopathy%20with%20spike-wave%20activation%20in%20sleep_AAM.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10189297Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10189297/2/Cross_Corticosteroids%20versus%20clobazam%20for%20treatment%20of%20children%20with%20epileptic%20encephalopathy%20with%20spike-wave%20activation%20in%20sleep_AAM.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10189297Test/

المؤلفون: Sanders, Maurits W, Van der Wolf, Iskander, Jansen, Floor E, Aronica, Eleonora, Helmstaedter, Christoph, Racz, Attila, Surges, Rainer, Grote, Alexander, Becker, Albert J, Rheims, Sylvain, Catenoix, Hélène, Duncan, John S, De Tisi, Jane, Jacques, Thomas S, Cross, J Helen, Kalviainen, Reetta, Rauramaa, Tuomas, Chassoux, Francine, Devaux, Bertrand C, Di Gennaro, Giancarlo, Esposito, Vincenzo, Bodi, Istvan, Honavar, Mrinalini, Bien, Christian G, Cloppenborg, Thomas, Coras, Roland, Hamer, Hajo M, Marusic, Petr, Kalina, Adam, Pieper, Tom, Kudernatsch, Manfred, Hartlieb, Till S, Von Oertzen, Tim J, Aichholzer, Martin, Dorfmuller, Georg, Chipaux, Mathilde, Noachtar, Soheyl, Kaufmann, Elisabeth, Schulze-Bonhage, Andreas, Scheiwe, Christian F, Özkara, Cigdem, Grunwald, Thomas, Koenig, Kristina, Guerrini, Renzo, Barba, Carmen, Buccoliero, Anna Maria, Giordano, Flavio, Rosenow, Felix, Menzler, Katja, Garbelli, Rita, Deleo, Francesco, Krsek, Pavel, Straka, Barbora, Arzimanoglou, Alexis A, Toulouse, Joseph, Van Paesschen, Wim, Theys, Tom, Pimentel, José, Loução De Amorim, Isabel M, Specchio, Nicola, De Palma, Luca, Feucht, Martha, Scholl, Theresa, Roessler, Karl, Toledano Delgado, Rafael, Gil-Nagel, Antonio, Raicevic, Savo, Ristic, Aleksandar J, Schijns, Olaf, Beckervordersandforth, Jan, San Antonio-Arce, Victoria, Rumia, Jordi, Blumcke, Ingmar, Braun, Kees P, as the European Epilepsy Brain Bank Consortium (EEBB)

المصدر: Neurology , 102 (4) , Article e208007. (2024)

وصف الملف: application/pdf

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10186513/1/WNL.0000000000208007.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10186513Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10186513/1/WNL.0000000000208007.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10186513Test/

المؤلفون: Papadopoulou, Maria T., Muccioli, Lorenzo, Bisulli, Francesca, Klotz, Kerstin Alexandra, Fons, Carmen, Trivisano, Marina, Kabulashvili, Teia, Specchio, Nicola, Lesca, Gaetan, Arzimanoglou, Alexis

المصدر: Epilepsia Open ; volume 9, issue 3, page 996-1006 ; ISSN 2470-9239 2470-9239

الإتاحة: https://doi.org/10.1002/epi4.12930Test

المؤلفون: 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, Kassai, Behrouz

المصدر: Epilepsia Open ; volume 9, issue 2, page 582-591 ; ISSN 2470-9239 2470-9239

الإتاحة: https://doi.org/10.1002/epi4.12892Test

المؤلفون: Amin, Sam, Møller, Rikke S., Aledo‐Serrano, Angel, Arzimanoglou, Alexis, Bager, Patrick, Jóźwiak, Sergiusz, Kluger, Gerhard Josef, López‐Cabeza, Sandra, Nabbout, Rima, Partridge, Carol‐Anne, Schubert‐Bast, Susanne, Specchio, Nicola, Kälviäinen, Reetta

المصدر: Epilepsia Open ; volume 9, issue 3, page 832-849 ; ISSN 2470-9239 2470-9239

الإتاحة: https://doi.org/10.1002/epi4.12914Test

المؤلفون: Cerulli Irelli, Emanuele, Cocchi, Enrico, Ramantani, Georgia, Morano, Alessandra, Riva, Antonella, Caraballo, Roberto H, Giuliano, Loretta, Yilmaz, Tülay, Panagiotakaki, Eleni, Operto, Francesca F, Giraldez, Beatriz Gonzalez, Balestrini, Simona, Silvennoinen, Katri, Casciato, Sara, Comajuan, Marion, Fortunato, Francesco, Giallonardo, Anna T, Gamirova, Rimma, Coppola, Antonietta, Di Gennaro, Giancarlo, Labate, Angelo, Sofia, Vito, Kluger, Gerhard J, Gambardella, Antonio, Kasteleijn-Nolst Trenite, Dorothee, Baykan, Betul, Sisodiya, Sanjay M, Arzimanoglou, Alexis, Striano, Pasquale, Di Bonaventura, Carlo

المساهمون: Cerulli Irelli, Emanuele, Cocchi, Enrico, Ramantani, Georgia, Morano, Alessandra, Riva, Antonella, Caraballo, Roberto H, Giuliano, Loretta, Yilmaz, Tülay, Panagiotakaki, Eleni, Operto, Francesca F, Giraldez, Beatriz Gonzalez, Balestrini, Simona, Silvennoinen, Katri, Casciato, Sara, Comajuan, Marion, Fortunato, Francesco, Giallonardo, Anna T, Gamirova, Rimma, Coppola, Antonietta, Di Gennaro, Giancarlo, Labate, Angelo, Sofia, Vito, Kluger, Gerhard J, Gambardella, Antonio, Kasteleijn-Nolst Trenite, Dorothee, Baykan, Betul, Sisodiya, Sanjay M, Arzimanoglou, Alexi, Striano, Pasquale, Di Bonaventura, Carlo

مصطلحات موضوعية: Jeavons syndrome, catamenial seizure, drug resistance, genetic generalized epilepsy (GGE), photosensitivity

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37021337; info:eu-repo/semantics/altIdentifier/wos/WOS:000974144800001; journal:EPILEPSIA; https://hdl.handle.net/11573/1679179Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85153755637

الإتاحة: https://doi.org/10.1111/epi.17609Test
https://hdl.handle.net/11573/1679179Test

المؤلفون: Cerulli Irelli, Emanuele, Cocchi, Enrico, Ramantani, Georgia, Riva, Antonella, Caraballo, Roberto H, Morano, Alessandra, Giuliano, Loretta, Yilmaz, Tülay, Panagiotakaki, Eleni, Operto, Francesca F, Giraldez, Beatriz Gonzalez, Balestrini, Simona, Silvennoinen, Katri, Casciato, Sara, Comajuan, Marion, Fortunato, Francesco, Giallonardo, Anna T, Gamirova, Rimma, Coppola, Antonietta, Di Gennaro, Giancarlo, Labate, Angelo, Sofia, Vito, Kluger, Gerhard J, Gambardella, Antonio, Kasteleijn-Nolst Trenite, Dorothee, Baykan, Betul, Sisodiya, Sanjay M, Arzimanoglou, Alexis, Striano, Pasquale, Di Bonaventura, Carlo, Meletti Stefano

المساهمون: Cerulli Irelli, Emanuele, Cocchi, Enrico, Ramantani, Georgia, Riva, Antonella, Caraballo, Roberto H, Morano, Alessandra, Giuliano, Loretta, Yilmaz, Tülay, Panagiotakaki, Eleni, Operto, Francesca F, Giraldez, Beatriz Gonzalez, Balestrini, Simona, Silvennoinen, Katri, Casciato, Sara, Comajuan, Marion, Fortunato, Francesco, Giallonardo, Anna T, Gamirova, Rimma, Coppola, Antonietta, Di Gennaro, Giancarlo, Labate, Angelo, Sofia, Vito, Kluger, Gerhard J, Gambardella, Antonio, Kasteleijn-Nolst Trenite, Dorothee, Baykan, Betul, Sisodiya, Sanjay M, Arzimanoglou, Alexi, Striano, Pasquale, Di Bonaventura, Carlo, Meletti, Stefano

مصطلحات موضوعية: Jeavons Syndrome, classification, eyelid myoclonia with absences (EMA), idiopathic generalized epilepsy (IGE), juvenile myoclonic epilepsy (JME)

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36307934; info:eu-repo/semantics/altIdentifier/wos/WOS:000881948000001; volume:64; issue:1; firstpage:196; lastpage:207; journal:EPILEPSIA; https://hdl.handle.net/11380/1294465Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85142092302

الإتاحة: https://doi.org/10.1111/epi.17450Test
https://hdl.handle.net/11380/1294465Test

المؤلفون: Irelli, Emanuele Cerulli, Cocchi, Enrico, Ramantani, Georgia, Morano, Alessandra, Riva, Antonella, Caraballo, Roberto H, Giuliano, Loretta, Yilmaz, Tülay, Panagiotakaki, Eleni, Operto, Francesca F, Giraldez, Beatriz Gonzalez, Balestrini, Simona, Silvennoinen, Katri, Casciato, Sara, Comajuan, Marion, Fortunato, Francesco, Giallonardo, Anna T, Gamirova, Rimma, Coppola, Antonietta, Di Gennaro, Giancarlo, Labate, Angelo, Sofia, Vito, Kluger, Gerhard J, Gambardella, Antonio, Trenite, Dorothee Kasteleijn-Nolst, Baykan, Betul, Sisodiya, Sanjay M, Arzimanoglou, Alexis, Striano, Pasquale, Di Bonaventura, Carlo, EEM study group

المصدر: Epilepsia , 64 (6) e105-e111. (2023)

مصطلحات موضوعية: Jeavons syndrome, catamenial seizures, drug resistance, genetic generalized epilepsy (GGE), photosensitivity

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10168109/1/Sex%20based%20electroclinical%20differences%20and%20prognostic%20factors%20in%20epilepsy%20with%20eyelid%20myoclonia.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10168109Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10168109/1/Sex%20based%20electroclinical%20differences%20and%20prognostic%20factors%20in%20epilepsy%20with%20eyelid%20myoclonia.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10168109Test/

المؤلفون: Henshall, David C, Arzimanoglou, Alexis, Dedeurwaerdere, Stefanie, Guerrini, Renzo, Jozwiak, Sergiusz, Kokaia, Merab, Lerche, Holger, Pitkänen, Asla, Ryvlin, Philippe, Simonato, Michele, Sisodiya, Sanjay M

المصدر: Epilepsy Research , 189 , Article 107068. (2023)

مصطلحات موضوعية: Brain, Diagnosis, Epilepsy, Horizon Europe, Public Patient Involvement, Research agenda, Stakeholders, Therapeutics

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10165740/1/Sisodiya_EPICLUSTER%20Final%20Meeting%20report.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10165740Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10165740/1/Sisodiya_EPICLUSTER%20Final%20Meeting%20report.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10165740Test/