المؤلفون: Tarek El Halabi, Maya Dirani, Mostafa Hotait, Wassim Nasreddine, Ahmad Beydoun

المصدر: Epilepsia Open, Vol 6, Iss 1, Pp 73-78 (2021)

مصطلحات موضوعية: familial epilepsy of infancy with migrating focal seizures, infantile epileptic encephalopathy, potassium bromide, SZT2, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2470-9239Test

الوصول الحر: https://doaj.org/article/1c9787ed998e4daa8e5929beb7c197c4Test

المؤلفون: Zuberi, Sameer M, Wirrell, Elaine, Yozawitz, Elissa, Wilmshurst, Jo M, Specchio, Nicola, Riney, Kate, Pressler, Ronit, Auvin, Stephane, Samia, Pauline, Hirsch, Edouard, Galicchio, Santiago, Triki, Chahnez, Snead, O Carter, Wiebe, Samuel, Cross, J Helen, Tinuper, Paolo, Scheffer, Ingrid E, Perucca, Emilio, Moshé, Solomon L, Nabbout, Rima

المصدر: Epilepsia (2022)

مصطلحات موضوعية: Dravet syndrome, developmental and epileptic encephalopathy, epilepsy of infancy with migrating focal seizures, infantile spasms, self-limited epilepsies

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10148126/1/Epilepsia%20-%202022%20-%20Zuberi%20-%20ILAE%20classification%20and%20definition%20of%20epilepsy%20syndromes%20with%20onset%20in%20neonates%20and%20infants%20.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10148126Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10148126/1/Epilepsia%20-%202022%20-%20Zuberi%20-%20ILAE%20classification%20and%20definition%20of%20epilepsy%20syndromes%20with%20onset%20in%20neonates%20and%20infants%20.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10148126Test/

المؤلفون: Zuberi, Sameer M., Wirrell, Elaine, Yozawitz, Elissa, Wilmshurst, Jo M., Specchio, Nicola, Riney, Kate, Pressler, Ronit, Auvin, Stephane, Samia, Pauline, Hirsch, Edouard

المصدر: Paediatrics and Child Health, East Africa

مصطلحات موضوعية: developmental and epileptic encephalopathy, Dravet syndrome, epilepsy of infancy with migrating focal seizures, infantile spasms, self- limited epilepsies, Pediatrics

وصف الملف: application/pdf

العلاقة: https://ecommons.aku.edu/eastafrica_fhs_mc_paediatr_child_health/193Test; https://ecommons.aku.edu/context/eastafrica_fhs_mc_paediatr_child_health/article/1231/viewcontent/Epilepsia___2022___Zuberi___ILAE_classification_and_definition_of_epilepsy_syndromes_with_onset_in_neonates_and_infants_.pdfTest

الإتاحة: https://ecommons.aku.edu/eastafrica_fhs_mc_paediatr_child_health/193Test
https://ecommons.aku.edu/context/eastafrica_fhs_mc_paediatr_child_health/article/1231/viewcontent/Epilepsia___2022___Zuberi___ILAE_classification_and_definition_of_epilepsy_syndromes_with_onset_in_neonates_and_infants_.pdfTest

المؤلفون: Eriko Koshimizu, Masaya Kubota, Mitsuhiro Kato, Naomichi Matsumoto, Rika Kosaki, Ryosuke Urabe, Satoko Miyatake, Yuichi Abe

المصدر: Epilepsy & Seizure. 2022, 14(1):17

المؤلفون: Darra, Francesca, Lo Barco, Tommaso, Opri, Roberta, Parrini, Elena, Bianchini, Claudia, Fiorini, Elena, Simonati, Alessandro, Dalla Bernardina, Bernardo, Cantalupo, Gaetano, Guerrini, Renzo

المساهمون: Darra, Francesca, Lo Barco, Tommaso, Opri, Roberta, Parrini, Elena, Bianchini, Claudia, Fiorini, Elena, Simonati, Alessandro, Dalla Bernardina, Bernardo, Cantalupo, Gaetano, Guerrini, Renzo

مصطلحات موضوعية: metabolic disease (inherited), status epilepticus, epilepsy of infancy with migrating focal seizures (EIMFS), ARV1 mutations, genetic screening

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34017911; volume:7; issue:e593; firstpage:1; lastpage:8; numberofpages:8; journal:NEUROLOGY. GENETICS; http://hdl.handle.net/11562/1043767Test; https://dx.doi.org/10.1212/NXG.0000000000000593Test

الإتاحة: https://doi.org/10.1212/NXG.0000000000000593Test
http://hdl.handle.net/11562/1043767Test

المؤلفون: Bonardi, Claudia M, Heyne, Henrike O, Fiannacca, Martina, Fitzgerald, Mark P, Gardella, Elena, Gunning, Boudewijn, Olofsson, Kern, Lesca, Gaétan, Verbeek, Nienke, Stamberger, Hannah, Striano, Pasquale, Zara, Federico, Mancardi, Maria M, Nava, Caroline, Syrbe, Steffen, Buono, Salvatore, Baulac, Stephanie, Coppola, Antonietta, Weckhuysen, Sarah, Schoonjans, An-Sofie, Ceulemans, Berten, Sarret, Catherine, Baumgartner, Tobias, Muhle, Hiltrud, des Portes, Vincent, Toulouse, Joseph, Nougues, Marie-Christine, Rossi, Massimiliano, Demarquay, Geneviève, Ville, Dorothée, Hirsch, Edouard, Maurey, Hélène, Willems, Marjolaine, de Bellescize, Julitta, Altuzarra, Cecilia Desmettre, Villeneuve, Nathalie, Bartolomei, Fabrice, Picard, Fabienne, Hornemann, Frauke, Koolen, David A, Kroes, Hester Y, Reale, Chiara, Fenger, Christina D, Tan, Wen-Hann, Dibbens, Leanne, Bearden, David R, Møller, Rikke S, Rubboli, Guido

المصدر: ISSN: 0006-8950 ; Brain, vol. 144, no. 12 (2021) p. 3635-3650.

مصطلحات موضوعية: info:eu-repo/classification/ddc/616.8, KCNT1, Developmental and epileptic encephalopathies, Epilepsy of infancy with migrating focal seizures, Epileptic encephalopathies, Sleep-related hypermotor epilepsy

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34114611; info:eu-repo/grantAgreement/EC/H2020/682345/EU/NEUROBIOLOGY OF EPILEPSY GENES/EPITOR; https://archive-ouverte.unige.ch/unige:158799Test; unige:158799

الإتاحة: https://doi.org/10.1093/brain/awab219Test
https://archive-ouverte.unige.ch/unige:158799Test

المؤلفون: Xiao Mao, Nadine Bruneau, Quwen Gao, Hélène Becq, Zhengjun Jia, Hui Xi, Li Shu, Hua Wang, Pierre Szepetowski, Laurent Aniksztejn

المصدر: Frontiers in Cellular Neuroscience, Vol 14 (2020)

مصطلحات موضوعية: epilepsy of infancy with migrating focal seizures, KNa channels, KCNT genes, epilepsy, encephalopathy, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/article/10.3389/fncel.2020.00001/fullTest; https://doaj.org/toc/1662-5102Test

الوصول الحر: https://doaj.org/article/8bb330b9083748019e9f0984ed78b8c0Test

المؤلفون: Poisson, Kelsey, Wong, Matthew, Lee, Chon, Cilio, Maria-Roberta

المساهمون: UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de neurologie pédiatrique

المصدر: European journal of paediatric neurology, Vol. 25, p. 77-81 (2020)

مصطلحات موضوعية: Cannabidiol, Epilepsy of infancy with migrating focal seizures, Epileptic encephalopathy, Treatment resistant epilepsy

العلاقة: boreal:231731; http://hdl.handle.net/2078.1/231731Test; info:pmid/31926846; urn:ISSN:1090-3798; urn:EISSN:1532-2130

الإتاحة: https://doi.org/10.1016/j.ejpn.2019.12.024Test
http://hdl.handle.net/2078.1/231731Test

المؤلفون: Mao, Xiao, Bruneau, Nadine, Gao, Quwen, Becq, Hélène, Jia, Zhengjun, Xi, Hui, Shu, Li, Wang, Hua, Szepetowski, Pierre, Aniksztejn, Laurent

المساهمون: Hunan Agricultural University Changsha, Institut de Neurobiologie de la Méditerranée Aix-Marseille Université (INMED - INSERM U1249), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Guangzhou University, National Natural Science Foundation of China (grant number 81801136), and by the Natural Science Foundation of Hunan Province, China (grant number 2017JJ3142), European Project: 602531,EC:FP7:HEALTH,FP7-HEALTH-2013-INNOVATION-1,DESIRE(2013)

المصدر: ISSN: 1662-5102 ; Frontiers in Cellular Neuroscience ; https://amu.hal.science/hal-02509029Test ; Frontiers in Cellular Neuroscience, 2020, 14, ⟨10.3389/fncel.2020.00001⟩.

مصطلحات موضوعية: epilepsy of infancy with migrating focal seizures, K Na channels, KCNT genes, epilepsy, encephalopathy, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]

العلاقة: info:eu-repo/grantAgreement/EC/FP7/602531/EU/Development and Epilepsy - Strategies for Innovative Research to improve diagnosis, prevention and treatment in children with difficult to treat Epilepsy/DESIRE; hal-02509029; https://amu.hal.science/hal-02509029Test; https://amu.hal.science/hal-02509029/documentTest; https://amu.hal.science/hal-02509029/file/fncel-14-00001.pdfTest

الإتاحة: https://doi.org/10.3389/fncel.2020.00001Test
https://amu.hal.science/hal-02509029Test
https://amu.hal.science/hal-02509029/documentTest
https://amu.hal.science/hal-02509029/file/fncel-14-00001.pdfTest

المؤلفون: Numis, Adam L, Nair, Umesh, Datta, Anita N, Sands, Tristan T, Oldham, Michael S, Patel, Akash, Li, Melody, Gazina, Elena, Petrou, Steven, Cilio, Maria-Roberta

المساهمون: UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de neurologie pédiatrique

المصدر: Epilepsia, Vol. 59, no.10, p. 1889-1898 (2018)

مصطلحات موضوعية: Animals, Anticonvulsants, Child, Preschool, Electroencephalography, Epilepsy, Female, Follow-Up Studies, Humans, Infant, Kv1.1 Potassium Channel, Magnetic Resonance Imaging, Male, Membrane Potentials, Mutagenesis, Mutation, Oocysts, Patch-Clamp Techniques, Pharmacogenetics, Quinidine, Transduction, Genetic, Treatment Outcome, Xenopus, KCNT1, electrophysiology, epilepsy of infancy with migrating focal seizures, epileptic encephalopathy, precision medicine

العلاقة: boreal:231741; http://hdl.handle.net/2078.1/231741Test; info:pmid/30182418; urn:ISSN:0013-9580; urn:EISSN:1528-1167

الإتاحة: https://doi.org/10.1111/epi.14551Test
http://hdl.handle.net/2078.1/231741Test