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1دورية أكاديمية
المؤلفون: Mattison, Kari, Tossing, Gilles, Mulroe, Fred, Simmons, Callum, Butler, Kameryn, Schreiber, Alison, Alsadah, Adnan, Neilson, Derek, Naess, Karin, Wedell, Anna, Wredenberg, Anna, Sorlin, Arthur, McCann, Emma, Burghel, George, Menendez, Beatriz, Hoganson, George, Botto, Lorenzo, Filloux, Francis, Aledo-Serrano, Ángel, Gil-Nagel, Antonio, Tatton-Brown, Katrina, Verbeek, Nienke, van der Zwaag, Bert, Aleck, Kyrieckos, Fazenbaker, Andrew, Balciuniene, Jorune, Dubbs, Holly, Marsh, Eric, Garber, Kathryn, Ek, Jakob, Duno, Morten, Hoei-Hansen, Christina, Deardorff, Matthew, Raca, Gordana, Quindipan, Catherine, van Hirtum-Das, Michele, Breckpot, Jeroen, Hammer, Trine, Møller, Rikke, Whitney, Andrea, Douglas, Andrew, Kharbanda, Mira, Brunetti-Pierri, Nicola, Morleo, Manuela, Nigro, Vincenzo, May, Halie, Tao, James, Sherr, Elliot, Dobyns, William, Baines, Richard, Warwicker, Jim, Parker, J, Banka, Siddharth, Campeau, Philippe, Escayg, Andrew, Argilli, Emanuela
المصدر: Brain: a journal of neurology. 146(4)
مصطلحات موضوعية: ATP6V0C, V-ATPase, VMA3, epilepsy genetics, neurodevelopmental disorders, Humans, Vacuolar Proton-Translocating ATPases, Saccharomyces cerevisiae, Epilepsy, Adenosine Triphosphate
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/8hz365sf
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2دورية أكاديمية
المؤلفون: Katrine M. Johannesen, Eduardo Pérez-Palma, Guido Rubboli
المصدر: Frontiers in Neuroscience, Vol 17 (2023)
مصطلحات موضوعية: SLC6A1, epilepsy, epilepsy genetics, neurodevelopmental disorders, genetics, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Katrine M. Johannesen, Jimmi Nielsen, Anne Sabers, Bertrand Isidor, Anja A. Kattentidt-Mouravieva, Dominik Zieglgänsberger, Alexis R. Heidlebaugh, Kathryn F. Oetjens, Anna Abuli Vidal, Jakob Christensen, Jacob Tiller, Amber N. Freed, Rikke S. Møller, Guido Rubboli
المصدر: Frontiers in Neuroscience, Vol 17 (2023)
مصطلحات موضوعية: SLC6A1, neurodevelopmental disorders, epilepsy, epilepsy genetics, intellectual disability, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
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4
المؤلفون: Eisfeldt, Jesper, Schuy, Jakob, Stattin, Eva-Lena, Kvarnung, Malin, Falk, Anna, Feuk, Lars, Lindstrand, Anna
المصدر: International Journal of Molecular Sciences StemTherapy: National Initiative on Stem Cells for Regenerative Therapy. 23(16)
مصطلحات موضوعية: Autistic Disorder/genetics, Chromosome Mapping, Epilepsy/genetics, Humans, Osteoporosis/genetics, Protein Serine-Threonine Kinases/genetics, Translocation, Genetic, Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Cell- och molekylärbiologi, Medical and Health Sciences, Basic Medicine, Cell and Molecular Biology
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5دورية أكاديمية
المؤلفون: Elissa Yozawitz, Solomon L. Moshé
المصدر: Acta Epileptologica, Vol 4, Iss 1, Pp 1-10 (2022)
مصطلحات موضوعية: Syndrome, Epilepsy syndrome, Genetics, History of epilepsy genetics, ILAE history, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2524-4434
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6دورية أكاديمية
المؤلفون: Giovanni Battista Dell’Isola, Elisabetta Mencaroni, Antonella Fattorusso, Giorgia Tascini, Paolo Prontera, Valentina Imperatore, Giuseppe Di Cara, Pasquale Striano, Alberto Verrotti
المصدر: BMC Medical Genomics, Vol 15, Iss 1, Pp 1-5 (2022)
مصطلحات موضوعية: PCDH19, AEDs, Epilepsy genetics, Case report, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1755-8794
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7دورية أكاديمية
المؤلفون: Dell’Isola, Giovanni BattistaAff1, IDs1292002201313w_cor1, Mencaroni, Elisabetta, Fattorusso, Antonella, Tascini, Giorgia, Prontera, Paolo, Imperatore, Valentina, Di Cara, Giuseppe, Striano, PasqualeAff3, Aff4, Verrotti, Alberto
المصدر: BMC Medical Genomics. 15(1)
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8دورية أكاديمية
المؤلفون: Yozawitz, ElissaAff1, Aff2, Aff3, Aff4, IDs42494022001103_cor1, Moshé, Solomon L.Aff1, Aff2, Aff3, Aff4, Aff5
المصدر: Acta Epileptologica. 4(1)
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9دورية أكاديمية
المؤلفون: Yuskaitis, Christopher J, Ruzhnikov, Maura RZ, Howell, Katherine B, Allen, I Elaine, Kapur, Kush, Dlugos, Dennis J, Scheffer, Ingrid E, Poduri, Annapurna, Sherr, Elliott H
مصطلحات موضوعية: Epilepsy, Pediatric, Genetics, Neurodegenerative, Clinical Research, Neurosciences, Prevention, Brain Disorders, 2.1 Biological and endogenous factors, Aetiology, Neurological, Age of Onset, Child, Child Development, Child, Preschool, Developmental Disabilities, Female, Humans, Infant, Male, Phenotype, Prognosis, Retrospective Studies, Spasms, Infantile, Whole Exome Sequencing, Infantile spasms, Cryptogenic infantile spasms, Developmental outcomes, Epileptic encephalopathy, Seizures, Epilepsy genetics, Genotype-phenotype, Exome Sequencing, Paediatrics and Reproductive Medicine, Neurology & Neurosurgery
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/5099g0z6
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10دورية أكاديمية
المؤلفون: Burglen, Lydie, Van Hoeymissen, Evelien, Qebibo, Leila, Barth, Magalie, Belnap, Newell, Boschann, Felix, Depienne, Christel, De Clercq, Katrien, Douglas, Andrew G L, Fitzgerald, Mark P, Foulds, Nicola, Garel, Catherine, Helbig, Ingo, Held, Katharina, Horn, Denise, Janssen, Annelies, Kaindl, Angela M, Narayanan, Vinodh, Prager, Christina, Rupin-Mas, Mailys, Afenjar, Alexandra, Zhao, Siyuan, Ramaekers, Vincent, Ruggiero, Sarah M, Thomas, Simon, Valence, Stéphanie, Van Maldergem, Lionel, Rohacs, Tibor, Rodriguez, Diana, Dyment, David, Voets, Thomas, Vriens, Joris
المصدر: eLife, 12 (2023-01-17)
مصطلحات موضوعية: TRPM3, cell biology, cerebellar atrophy, epilepsy, gain-of-function, human, intellectual disability, neurodevelopment, neuroscience, Neurosteroids, Ion Channels, TRPM Cation Channels, TRPM3 protein, human, Animals, Humans, Gain of Function Mutation, Ion Channels/genetics, Mammals/metabolism, Neurodevelopmental Disorders/genetics, Epilepsy/genetics, TRPM Cation Channels/genetics, TRPM Cation Channels/metabolism, Mammals, Neurodevelopmental Disorders, Neuroscience (all), Biochemistry, Genetics and Molecular Biology (all), Immunology and Microbiology (all), General Immunology and Microbiology, General Biochemistry, Genetics and Molecular Biology, General Medicine, General Neuroscience, Human health sciences, Neurology, Sciences de la santé humaine, Neurologie
Relation: https://cdn.elifesciences.org/articles/81032/elife-81032-v3.pdf; urn:issn:2050-084X
URL الوصول: https://orbi.uliege.be/handle/2268/313877