المؤلفون: Carolina Ciumas, Alexandra Montavont, Faustine Ilski, Agathe Laurent, Mani Saignavongs, Jean-Philippe Lachaux, Julitta de Bellescize, Eleni Panagiotakaki, Karine Ostrowsky-Coste, Vania Herbillon, Danielle Ibarrola, Marc Hermier, Alexis Arzimanoglou, Philippe Ryvlin

المصدر: NeuroImage: Clinical, Vol 28, Iss , Pp 102392- (2020)

مصطلحات موضوعية: Rolandic epilepsy, BCECTS, Working memory, fMRI, Children with epilepsy, Verbal, Computer applications to medicine. Medical informatics, R858-859.7, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2213158220302291Test; https://doaj.org/toc/2213-1582Test

الوصول الحر: https://doaj.org/article/705f0a7a45db482594cd1a1612d7e99fTest

المؤلفون: Andreas Brunklaus, Tobias Brünger, Tony Feng, Carmen Fons, Anni Lehikoinen, Eleni Panagiotakaki, Mihaela-Adela Vintan, Joseph Symonds, James Andrew, Alexis Arzimanoglou, Sarah Delima, Julie Gallois, Donncha Hanrahan, Gaetan Lesca, Stewart MacLeod, Dragan Marjanovic, Amy McTague, Noemi Nuñez-Enamorado, Eduardo Perez-Palma, M Scott Perry, Karen Pysden, Sophie J Russ-Hall, Ingrid E Scheffer, Krystal Sully, Steffen Syrbe, Ulvi Vaher, Murugan Velayutham, Julie Vogt, Shelly Weiss, Elaine Wirrell, Sameer M Zuberi, Dennis Lal, Rikke S Møller, Massimo Mantegazza, Sandrine Cestèle

المصدر: BRAIN
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

مصطلحات موضوعية: Arthrogryposis, Epilepsy, Movement Disorders, gain of function, Migraine with Aura, Infant, Newborn, Infant, Epilepsies, Myoclonic, arthrogryposis, NAV1.1 Voltage-Gated Sodium Channel, Phenotype, Gain of Function Mutation, epilepsy, Humans, SCN1A, movement disorder, Neurology (clinical), Spasms, Infantile

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28d78f9a1dfb34105b40b0c635c1e599Test
https://doi.org/10.1093/brain/awac210Test

المؤلفون: Eleni Panagiotakaki, Maria T Papadopoulou, Gaetan Lesca, Alexis Arzimanoglou, Mohamad A Mikati

المصدر: Brain.

مصطلحات موضوعية: Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c232e0dd7e0daac3e1ba6751dc827196Test
https://doi.org/10.1093/brain/awad053Test

المؤلفون: Quentin Welniarz, Domitille Gras, Agathe Roubertie, Maria T. Papadopoulou, Eleni Panagiotakaki, Emmanuel Roze

المصدر: Movement Disorders.

مصطلحات موضوعية: Neurology, Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::90d2f0cd7475394bce45612cebefacdcTest
https://doi.org/10.1002/mds.29357Test

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

مصطلحات موضوعية: DEPDC5, mTORC1 pathway, Genetic focal epilepsy, Focal cortical dysplasia, SUDEP

العلاقة: 10779/aru.23779713.v1; https://figshare.com/articles/journal_contribution/The_landscape_of_epilepsy-related_GATOR1_variants/23779713Test

الإتاحة: https://figshare.com/articles/journal_contribution/The_landscape_of_epilepsy-related_GATOR1_variants/23779713Test

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

المصدر: Epilepsia.

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ef917d9cd501833d0d081ed17c4dccdTest
https://pubmed.ncbi.nlm.nih.gov/36307934Test

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

المساهمون: HEMATIM - Hématopoïèse et immunologie - UR UPJV 4666 (HEMATIM), Université de Picardie Jules Verne (UPJV)-CHU Amiens-Picardie-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: European Journal of Medical Genetics
European Journal of Medical Genetics, 2022, 65 (3), pp.104445. ⟨10.1016/j.ejmg.2022.104445⟩

مصطلحات موضوعية: [SDV.GEN]Life Sciences [q-bio]/Genetics, Epilepsy, High-Throughput Nucleotide Sequencing, Nerve Tissue Proteins, General Medicine, Potassium Channels, Sodium-Activated, Cadherins, Protocadherins, Epilepsy Monogenic Mendelian Next-generation sequencing Gene panel Whole-genome sequencing, Mutation, Genetics, Humans, Genetic Predisposition to Disease, France, Genetic Testing, Child, Genetics (clinical), [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb65b8e29c1ee91950f6590e304a9c47Test
https://hal-amu.archives-ouvertes.fr/hal-03949438/documentTest

المؤلفون: Alexis Arzimanoglou, Julitta de Bellescize, Olivier Claris, Dominique Gauthier-Morel, Karine Ostrowsky-Coste, Eleni Panagiotakaki, Pascale Keo-Kosal, Zeynep Gokce-Samar, Alexandra Montavont

المساهمون: Hospices Civils de Lyon (HCL), Hôpital Femme Mère Enfant [CHU - HCL] (HFME)

المصدر: European Journal of Paediatric Neurology
European Journal of Paediatric Neurology, Elsevier, 2019, 23, pp.270-279. ⟨10.1016/j.ejpn.2019.01.006⟩

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, [SDV]Life Sciences [q-bio], Encephalopathy, Physical examination, Neurological examination, Status epilepticus, Hypoglycemia, Infant, Newborn, Diseases, Hypoxic Ischemic Encephalopathy, Cohort Studies, 03 medical and health sciences, Status Epilepticus, 0302 clinical medicine, Risk Factors, Seizures, 030225 pediatrics, medicine, Humans, Retrospective Studies, Neurologic Examination, Univariate analysis, medicine.diagnostic_test, business.industry, Infant, Newborn, Electroencephalography, General Medicine, Prognosis, medicine.disease, 3. Good health, Hypoxia-Ischemia, Brain, Multivariate Analysis, Pediatrics, Perinatology and Child Health, Cohort, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c493ba39a1e4f6bef0da8d39701a601Test
https://doi.org/10.1016/j.ejpn.2019.01.006Test

المؤلفون: Milton Pratt, Julie Uchitel, Blaire Rikard, Linh Tran, Joan Jasien, Rosaria Vavassori, Carmen Fons, Elisa De Grandis, Keri Wallace, Alexis Arzimanoglou, Isabella Cocco, Erin L. Heinzen, Lyndsey Prange, Eleni Panagiotakaki, Maria T Papadopoulou, Mohamad A. Mikati, Laura Caligiuri, David Goldstein, Arsen S. Hunanyan, Rebecca Moré, Tavis Abrahamsen, Aikaterini Vezyroglou

المصدر: Brain Communications

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Gross motor skill, Disease, Electroencephalography, Neurodevelopmental disorder, ATP1A3, Intellectual disability, disability, Mashlool D801N mouse, medicine, medicine.diagnostic_test, AcademicSubjects/SCI01870, business.industry, Alternating hemiplegia of childhood, General Engineering, medicine.disease, disability, Cohort, alternating hemiplegia of childhood, progression, Original Article, AcademicSubjects/MED00310, Mashlool D801N mouse, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d7032e328a3a3fec7aacc80bd733452Test
http://hdl.handle.net/11567/1076306Test

المؤلفون: Eleni Panagiotakaki, Mohamad A. Mikati, Alexis Arzimanoglou

المصدر: European Journal of Paediatric Neurology. 32:A4-A5

مصطلحات موضوعية: Dystonia, medicine.medical_specialty, Movement disorders, Abnormal eye movements, business.industry, Alternating hemiplegia of childhood, Hemiplegia, General Medicine, medicine.disease, Epilepsy, Physical medicine and rehabilitation, ATP1A3, Mutation, Pediatrics, Perinatology and Child Health, medicine, Humans, Neurology (clinical), Sodium-Potassium-Exchanging ATPase, medicine.symptom, business, Alternating hemiplegia

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eea8c77e684ad32f077859662b1fad0cTest
https://doi.org/10.1016/j.ejpn.2021.05.004Test