المؤلفون: Cathrine E. Gjerulfsen, Marina Nikanorova, Kern Olofsson, Cecilie Johannessen Landmark, Guido Rubboli, Rikke S. Møller

المصدر: Epilepsia Open, Vol 9, Iss 5, Pp 1891-1900 (2024)

مصطلحات موضوعية: childhood epilepsy, convulsive seizures, personalized medicine, SCN1A, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2470-9239

URL الوصول: https://doaj.org/article/cd42356d77534386b3d379ea26529632

المؤلفون: Aakash Mahesan, Gautam Kamila, Sheffali Gulati

المصدر: Annals of Indian Academy of Neurology, Vol 27, Iss 4, Pp 352-357 (2024)

مصطلحات موضوعية: dravet syndrome, future therapeutics, scn1a, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://journals.lww.com/10.4103/aian.aian_49_24; https://doaj.org/toc/0972-2327; https://doaj.org/toc/1998-3549

URL الوصول: https://doaj.org/article/df08e76c5fc348efbd377d1d782bce5d

المؤلفون: B. A. Abusueva, M. D. Shanavazova, М. A. Askevova, V. S. Khalilov, M. Yu. Bobylova

المصدر: Эпилепсия и пароксизмальные состояния, Vol 16, Iss 2, Pp 130-136 (2024)

مصطلحات موضوعية: dravet syndrome, scn1a gene, remission, drug resistance, cognitive functions, polytherapy, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.epilepsia.su/jour/article/view/1043; https://doaj.org/toc/2077-8333; https://doaj.org/toc/2311-4088

URL الوصول: https://doaj.org/article/19fb025abb994b6b8df9a5072ab49787

المؤلفون: Joanne C. Hall, Shahid Bashir, Melissa Tsuboyama, Raidah Al‐Bradie, Ali Mir, Mona Ali, Annapurna Poduri, Alexander Rotenberg

المصدر: Annals of the Child Neurology Society, Vol 2, Iss 2, Pp 92-105 (2024)

مصطلحات موضوعية: Dravet syndrome, EEG, epilepsy, SCN1A, Neurology. Diseases of the nervous system, RC346-429, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2831-3267

URL الوصول: https://doaj.org/article/652d6df1196b4915be59037e9a0f3955

المؤلفون: Majed Alluqmani, Abdulfatah M. Alayoubi, Jamil A. Hashmi, Sulman Basit

المصدر: Frontiers in Genetics, Vol 15 (2024)

مصطلحات موضوعية: Parkinson’s disease, SCN1A gene, mutation, exome sequencing, no epilepsy, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1496683/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/000894123662404e9b3923e86949053d

المؤلفون: Steffan P. Jones, Nathanael O'Neill, Jenna C. Carpenter, Sharon Muggeo, Gaia Colasante, Dimitri M. Kullmann, Gabriele Lignani

المصدر: Neurobiology of Disease, Vol 201, Iss , Pp 106688- (2024)

مصطلحات موضوعية: Dravet syndrome, Neurodevelopment, Excitatory neurons, Scn1a expression, Electrophysiology, Homeostatic plasticity, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996124002882; https://doaj.org/toc/1095-953X

URL الوصول: https://doaj.org/article/1ccb07d314b2457881d3f817618dbcda

المؤلفون: Elżbieta Stawicka, Anita Zielińska, Paulina Górka-Skoczylas, Karolina Kanabus, Renata Tataj, Tomasz Mazurczak, Dorota Hoffman-Zacharska

المصدر: Current Issues in Molecular Biology, Vol 46, Iss 5, Pp 4437-4451 (2024)

مصطلحات موضوعية: SCN1A gene, Dravet syndrome, DRVT, genotype–phenotype correlation, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1467-3045/46/5/269; https://doaj.org/toc/1467-3037; https://doaj.org/toc/1467-3045

URL الوصول: https://doaj.org/article/e2751c48b93a43b99d713cf4353688a2

المؤلفون: Denis M. Nyaga, Michael S. Hildebrand, Guillem deValles‐Ibáñez, Ngaire F. Keenan, Zimeng Ye, Christy W. LaFlamme, Heather C. Mefford, Mark F. Bennett, Melanie Bahlo, Lynette G. Sadleir

المصدر: Epilepsia Open, Vol 9, Iss 2, Pp 758-764 (2024)

مصطلحات موضوعية: genetic testing, PAFAH1B1, SCN1A, SNP arrays, structural variants, whole‐genome sequencing, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2470-9239

URL الوصول: https://doaj.org/article/3103487ddc324b14b1add1c9184bb83f

المؤلفون: Hinde El Mouhi, Meriame Abbassi, Meryem Jalte, Abdelhafid Natiq, Laila Bouguenouch, Sana Chaouki

المصدر: Annals of Child Neurology, Vol 32, Iss 2, Pp 67-82 (2024)

مصطلحات موضوعية: epilepsy, myoclonus, epilepsies, myoclonic, genes, scn1a, Internal medicine, RC31-1245, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://annchildneurol.org/upload/pdf/acn-2023-00367.pdf; https://doaj.org/toc/2635-909X; https://doaj.org/toc/2635-9103

URL الوصول: https://doaj.org/article/8bf80ad138e640d29c02084f77c3bf97

المؤلفون: Agung Triono, Elisabeth Siti Herini, Gunadi

المصدر: Journal of Medical Case Reports, Vol 18, Iss 1, Pp 1-9 (2024)

مصطلحات موضوعية: Dravet syndrome, SCN1A, Genetic, Case series, Next-generation sequencing, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1752-1947

URL الوصول: https://doaj.org/article/f1bd062a3a4a4fdaa1a8dc02da39aa8c

المؤلفون: Roemmich, Alexa Joanna, Vu, Thy, Lukacsovich, Tamas, Hawkins, Charlesice, Schutte, Soleil S, O’Dowd, Diane K

المصدر: eNeuro. 8(5)

مصطلحات موضوعية: Epilepsy, Genetics, Brain Disorders, Neurosciences, Neurodegenerative, Aetiology, 2.1 Biological and endogenous factors, Neurological, Animals, Drosophila, Epilepsies, Myoclonic, GABAergic Neurons, Humans, Mutation, NAV1.1 Voltage-Gated Sodium Channel, Phenotype, Seizures, electrophysiology, epilepsy, SCN1A, sodium channel

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1767v8gc
https://escholarship.org/content/qt1767v8gc/qt1767v8gc.pdf

المؤلفون: N. Dirkx, Wout J. Weuring, E. De Vriendt, N. Smal, J. van de Vondervoort, Ruben van ’t Slot, M. Koetsier, N. Zonnekein, Tim De Pooter, S. Weckhuysen, B. P. C. Koeleman

المصدر: BMC Biology, Vol 21, Iss 1, Pp 1-15 (2023)

مصطلحات موضوعية: Prime editing, EIEE, CRISPR, SCN1A, KCNQ2, Developmental and epileptic encephalopathy, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1741-7007

URL الوصول: https://doaj.org/article/1f458b182d604f85b62a269b125c9ff9

المؤلفون: Simona Balestrini, Viola Doccini, Sabrina Giometto, Ersilia Lucenteforte, Salvatore De Masi, Elisa Giarola, Isabella Brambilla, Federica Pieroni, Marco Perulli, Domenica Battaglia, Nicola Specchio, Francesca Ragona, Tiziana Granata, Simona Pellacani, Annarita Ferrari, Carla Marini, Sara Matricardi, Elisabetta Cesaroni, Lucio Giordano, Patrizia Accorsi, Vittorio Sciruicchio, Paolo Tinuper, Tullio Messana, Angelo Russo, Dario Pruna, Margherita Nosadini, Valentina De Giorgis, Davide Caputo, Residras Collaboration Group, Serena Pellegrin, Tommaso Lo Barco, Francesca Darra, Bernardo Dalla Bernardina, Renzo Guerrini

المصدر: Epilepsia Open, Vol 8, Iss 2, Pp 517-534 (2023)

مصطلحات موضوعية: epilepsy syndrome, natural history, rare disease, registry, SCN1A, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2470-9239

URL الوصول: https://doaj.org/article/b4967b84c41b483295572c1cca76ccff

المؤلفون: Das, Antara, Zhu, Bingyao, Xie, Yunyao, Zeng, Lisha, Pham, An T, Neumann, Jonathan C, Safrina, Olga, Benavides, Daniel R, MacGregor, Grant R, Schutte, Soleil S, Hunt, Robert F, O’Dowd, Diane K

المصدر: eNeuro. 8(2)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Neurosciences, Neurodegenerative, Epilepsy, Genetics, Brain Disorders, 2.1 Biological and endogenous factors, Neurological, Animals, Interneurons, Mice, Mice, Inbred C57BL, Mutation, NAV1.1 Voltage-Gated Sodium Channel, Seizures, Seizures, Febrile, CRISPR/Cas9, epilepsy, GEFS+, parvalbumin interneurons, SCN1A, seizures

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1b90h1jm
https://escholarship.org/content/qt1b90h1jm/qt1b90h1jm.pdf

المؤلفون: Giorgia Dinoi, Elena Conte, Orazio Palumbo, Mario Benvenuto, Maria Antonietta Coppola, Pietro Palumbo, Patrizia Lastella, Brigida Boccanegra, Ester Di Muro, Marco Castori, Massimo Carella, Vittorio Sciruicchio, Marina de Tommaso, Antonella Liantonio, Annamaria De Luca, Angela La Neve, Paola Imbrici

المصدر: Biomedicines, Vol 12, Iss 8, p 1698 (2024)

مصطلحات موضوعية: SCN1A, Nav1.1, epilepsy, patch-clamp, biallelic inheritance, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2227-9059/12/8/1698; https://doaj.org/toc/2227-9059

URL الوصول: https://doaj.org/article/1301cdd3bed04a10ad83ef8e40aba0bf

المؤلفون: S. Mohinish, Leema P. Cornelius, Neeraj Elango, Jered K. Livingston

المصدر: Annals of Indian Academy of Neurology, Vol 27, Iss 2, Pp 196-197 (2024)

مصطلحات موضوعية: cannabinoids, cerebellar atrophy, dravet syndrome, dystonia, scn1a mutation, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://journals.lww.com/annalsofian/fulltext/2024/27020/a_novel_case_of_scn1a_mutation_presenting_as.17.aspx; https://doaj.org/toc/0972-2327; https://doaj.org/toc/1998-3549

URL الوصول: https://doaj.org/article/ead3f5bede6643c384598d2e607eeed6

المؤلفون: Mantas Jokubaitis, Givi Lengvenis, Birutė Burnytė, Eglė Audronytė, Kristina Ryliškienė

المصدر: Frontiers in Neurology, Vol 15 (2024)

مصطلحات موضوعية: hemiplegic migraine, SCN1A, headache, brain atrophy, permanent deficits, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2024.1359994/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/78c45fb69a6547afa14d6f500fc16a6e

المؤلفون: Laña, B. (Borja), Crespo-Eguilaz, N. (Nerea), Sanchez-Carpintero, R. (Rocío)

مصطلحات موضوعية: Dravet syndrome, Social communication disorder, Autism spectrum disorder, SCN1A, Behavioural phenotype

وصف الملف: application/pdf

Relation: https://hdl.handle.net/10171/70156

الاتاحة: https://hdl.handle.net/10171/70156

المؤلفون: Gallagher, Declan, Pérez-Palma, Eduardo, Bruenger, Tobias, Ghanty, Ismael, Brilstra, Eva, Ceulemans, Berten, Chemaly, Nicole, de Lange, Iris, Depienne, Christel, Guerrini, Renzo, Mei, Davide, Møller, Rikke S., Nabbout, Rima, Regan, Brigid M., Schneider, Amy L., Scheffer, Ingrid E., Schoonjans, An Sofie, Symonds, Joseph D., Weckhuysen, Sarah, Zuberi, Sameer M., Lal, Dennis, Brunklaus, Andreas

المساهمون: Genetica, Genetica Klinische Genetica, Brain, Genetica Oper.Mang. Clinical Genetics, Child Health

مصطلحات موضوعية: Dravet syndrome, GEFS+, genotype–phenotype associations, SCN1A, severe myoclonic epilepsy of infancy, Neurology, Clinical Neurology

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/454752

الاتاحة: https://dspace.library.uu.nl/handle/1874/454752

المؤلفون: Jokubaitis, Mantas, Lengvenis, Givi, Burnytė, Birutė, Audronytė, Eglė, Ryliškienė, Kristina

المصدر: Frontiers in neurology., Lausanne : Frontiers Media SA, 2024, vol. 15, p. [1-5]. ; eISSN 1664-2295

مصطلحات موضوعية: brain atrophy, headache, hemiplegic migraine, permanent deficits, SCN1A

وصف الملف: application/pdf

Relation: https://epublications.vu.lt/object/elaba:197481786/197481786.pdf; https://repository.vu.lt/VU:ELABAPDB197481786&prefLang=en_US

الاتاحة: https://repository.vu.lt/VU:ELABAPDB197481786&prefLang=en_US