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

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

Relation: https://www.frontiersin.org/articles/10.3389/fnins.2023.1289821/full; https://doaj.org/toc/1662-453X

URL الوصول: https://doaj.org/article/1bcff17ea283413fac26e0b3d259c985

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

Relation: https://www.frontiersin.org/articles/10.3389/fnins.2023.1216653/full; https://doaj.org/toc/1662-453X

URL الوصول: https://doaj.org/article/9b772a0cf1ac4bf7a6f55e11c80726d3

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

URL الوصول: https://lup.lub.lu.se/record/1f0fa34b-aa3b-4959-b96a-97c9305cbc38
http://dx.doi.org/10.3390/ijms23169392

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

URL الوصول: https://doaj.org/article/3f2df5aa45d248e08749021253467b6d

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

URL الوصول: https://doaj.org/article/4a1127710cb54818ae3372936d200d91

المؤلفون: Dell’Isola, Giovanni Battista^{Aff1, IDs1292002201313w_cor1}, Mencaroni, Elisabetta, Fattorusso, Antonella, Tascini, Giorgia, Prontera, Paolo, Imperatore, Valentina, Di Cara, Giuseppe, Striano, Pasquale^{Aff3, Aff4}, Verrotti, Alberto

المصدر: BMC Medical Genomics. 15(1)

المؤلفون: Yozawitz, Elissa^{Aff1, Aff2, Aff3, Aff4, IDs42494022001103_cor1}, Moshé, Solomon L.^{Aff1, Aff2, Aff3, Aff4, Aff5}

المصدر: Acta Epileptologica. 4(1)

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

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