المؤلفون: Silva, Dina, Trinidad, Marena, Ljungdahl, Alicia, Revalde, Jezrael, Berguig, Geoffrey, Wallace, William, Patrick, Cory, Bomba, Lorenzo, Arkin, Michelle, Dong, Shan, Estrada, Karol, Hutchinson, Keino, LeBowitz, Jonathan, Schlessinger, Avner, Johannesen, Katrine, Møller, Rikke, Giacomini, Kathleen, Froelich, Steven, Sanders, Stephan, Wuster, Arthur

المصدر: American Journal of Human Genetics. 111(6)

مصطلحات موضوعية: GABA uptake, GAT-1, GAT1, SLC6A1, autism spectrum disorders, epilepsy with myoclonic-atonic seizures, missense vulnerability, neurodevelopmental delay, Humans, GABA Plasma Membrane Transport Proteins, Haploinsufficiency, Mutation, Missense, gamma-Aminobutyric Acid, Neurodevelopmental Disorders, Developmental Disabilities, Autistic Disorder, HEK293 Cells

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1sf730b7
https://escholarship.org/content/qt1sf730b7/qt1sf730b7.pdf

المؤلفون: Hirokazu Yamagishi, Hitoshi Osaka, Kazuhiro Muramatsu, Karin Kojima, Yukifumi Monden, Tadahiro Mitani, Yuta Asakura, Keizo Wakae, Kohei Nagai, Toshihiro Tajima

المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)

مصطلحات موضوعية: Perampanel, Lennox-Gastaut syndrome, Epilepsy with myoclonic atonic seizures, Long-term, Efficacy & safety, Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/e9fd2f8406004e5a9074568569ab70c3

المؤلفون: Zhen Li, Changming Han, Hongwei Zhao

المصدر: Frontiers in Pediatrics, Vol 12 (2025)

مصطلحات موضوعية: epilepsy with myoclonic-atonic seizures, SLC6A1 gene, developmental delay, levetiracetam, genetic variation, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2024.1492062/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/1890fc9cb3954f279612f48f376b451e

المؤلفون: Konstantin H. Kostov, Hrisimir Kostov, Pål Gunnar Larsson, Oliver Henning, Kari Modalsli Aaberg, Arild Egge, Jukka Peltola, Morten Ingvar Lossius

المصدر: Epilepsia Open, Vol 9, Iss 2, Pp 704-716 (2024)

مصطلحات موضوعية: atonic seizures, Dravet syndrome, Lennox–Gastaut syndrome, long‐term effects, vagus nerve stimulation, 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/8b956500a2934dd0832c576824756b6b

المؤلفون: H. Westley Phillips, Jasmine L. Hect, Emily Harford, Evelyn Pan, Taylor J. Abel

المصدر: Epilepsia Open, Vol 9, Iss 1, Pp 96-105 (2024)

مصطلحات موضوعية: atonic seizures, laser ablation, pediatric drug‐resistant epilepsy, seizure outcomes, 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/9ad9bbdb32e0414d9757a2470ea2987b

المؤلفون: Varun Sampat, Avantika Singh, Hema Patel

المصدر: Annals of the Child Neurology Society, Vol 1, Iss 4, Pp 320-323 (2023)

مصطلحات موضوعية: atonic seizures, BECTS, electroencephalogram (EEG), epilepsy, 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/7823f35cc4644b3e970a6e22f0e6dc44

المؤلفون: Jacopo Proietti, Elena Fiorini, Gaetano Cantalupo, Elena Fontana, Tommaso Lo Barco, Cecilia Bonin, Bernardo Dalla Bernardina, Francesca Darra

المصدر: Heliyon, Vol 10, Iss 2, Pp e24747- (2024)

مصطلحات موضوعية: Epilepsy with myoclonic-atonic seizures, Doose syndrome, Status epilepticus, Post-puberal age, Catamenial, Progestin, Science (General), Q1-390, Social sciences (General), H1-99

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2405844024007783; https://doaj.org/toc/2405-8440

URL الوصول: https://doaj.org/article/69b8e5bca7bb443296be3c410923e63c

المؤلفون: Silva, Dina Buitrago, Trinidad, Marena, Ljungdahl, Alicia, Revalde, Jezrael L., Berguig, Geoffrey Y., Wallace, William, Patrick, Cory S., Bomba, Lorenzo, Arkin, Michelle, Dong, Shan, Estrada, Karol, Hutchinson, Keino, LeBowitz, Jonathan H., Schlessinger, Avner, Johannesen, Katrine M., Møller, Rikke S., Giacomini, Kathleen M., Froelich, Steven, Sanders, Stephan J., Wuster, Arthur

المصدر: Silva , D B , Trinidad , M , Ljungdahl , A , Revalde , J L , Berguig , G Y , Wallace , W , Patrick , C S , Bomba , L , Arkin , M , Dong , S , Estrada , K , Hutchinson , K , LeBowitz , J H , Schlessinger , A , Johannesen , K M , Møller , R S , Giacomini , K M , Froelich , S , Sanders , S J & Wuster , A 2024 , ' Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants ....

مصطلحات موضوعية: autism spectrum disorders, epilepsy with myoclonic-atonic seizures, GABA uptake, GAT-1, GAT1, missense vulnerability, neurodevelopmental delay, SLC6A1

وصف الملف: application/pdf

Relation: https://portal.findresearcher.sdu.dk/da/publications/8a078cec-f767-4b8d-a983-670f94364693

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/8a078cec-f767-4b8d-a983-670f94364693
https://doi.org/10.1016/j.ajhg.2024.04.021
https://findresearcher.sdu.dk/ws/files/264663413/Open_Access_Version.pdf

المؤلفون: Rayan Magsi, Casey Ryan, Ajaz Sheikh, Mariam Noor, Naeem Mahfooz

المصدر: Translation, Vol 11, Iss 2 (2023)

مصطلحات موضوعية: Epilepsy, Genetics, Doose Syndrome, Myoclonic-Atonic Seizures, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://openjournals.utoledo.edu/index.php/translation/article/view/551; https://doaj.org/toc/2469-6706

URL الوصول: https://doaj.org/article/97e9db4b12484079a7b2264d058ec5f2

المؤلفون: Rolston, John D, Englot, Dario J, Wang, Doris D, Garcia, Paul A, Chang, Edward F

مصطلحات موضوعية: Corpus Callosum, Humans, Epilepsy, Generalized, Syncope, Psychosurgery, Vagus Nerve Stimulation, Atonic seizures, Corpus callosotomy, Drop attacks, Vagus nerve stimulation, Epilepsy, Brain Disorders, Neurodegenerative, Neurosciences, Clinical Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9n4079f8

المؤلفون: Carlson, Chad, Dugan, Patricia, Kirsch, Heidi E, Friedman, Daniel, Investigators, The EPGP

مصطلحات موضوعية: Biological Psychology, Clinical and Health Psychology, Psychology, Brain Disorders, Epilepsy, Neurosciences, Neurodegenerative, Clinical Research, Neurological, Adolescent, Adult, Age of Onset, Cohort Studies, DNA, Databases, Factual, Epilepsies, Partial, Female, Genome, Humans, Male, Phenotype, Seizures, Sex Characteristics, Young Adult, Sex, Focal epilepsy, Semiology, Generalized epilepsy, Atonic seizures, Deja vu, EPGP Investigators, Déjà vu, Clinical Sciences, Neurology & Neurosurgery, Biological psychology, Clinical and health psychology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4ms9v44w

المؤلفون: Hamza Ayaydın, Şermin Bilgen Ulgar

المصدر: Psychiatry and Clinical Psychopharmacology, Vol 29, Iss 4, Pp 529-532 (2019)

مصطلحات موضوعية: clozapine, valproic acid, atonic seizures, schizophrenia, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2475-0581

URL الوصول: https://doaj.org/article/c52bfe62eb4b42d8afee922dac5174c0

المؤلفون: Barbour, Kristen, Tian, Niu, Yozawitz, Elissa G, Wolf, Steven, McGoldrick, Patricia E, Sands, Tristan T, Nelson, Aaron, Basma, Natasha, Grinspan, Zachary M

المصدر: NYMC Faculty Publications

مصطلحات موضوعية: Rasmussen syndrome, Sturge–Weber syndrome, early infantile developmental and epileptic encephalopathy, epilepsy in infancy with migrating focal seizures, epilepsy with myoclonic–atonic seizures, Faculty

وصف الملف: text/html

Relation: https://touroscholar.touro.edu/nymc_fac_pubs/5343; https://touroscholar.touro.edu/context/nymc_fac_pubs/article/6269/type/native/viewcontent/_myncbishare_nymclib.html

الاتاحة: https://touroscholar.touro.edu/nymc_fac_pubs/5343
https://doi.org/10.1111/epi.18029
https://touroscholar.touro.edu/context/nymc_fac_pubs/article/6269/type/native/viewcontent/_myncbishare_nymclib.html

المؤلفون: Allan Bayat, Manuela Pendziwiat, Ewa Obersztyn, Paula Goldenberg, Pia Zacher, Jan Henje Döring, Steffen Syrbe, Amber Begtrup, Artem Borovikov, Artem Sharkov, Aneta Karasińska, Maria Giżewska, Wendy Mitchell, Eva Morava, Rikke S. Møller, Guido Rubboli

المصدر: Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: myoclonic-atonic seizures, generalized seizures, disease severity, developmental delay, glycosylphosphatidylinositol biosynthesis defects, inherited glycosylphosphatidylinositol-anchored protein (GPI-AP) deficiency, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.663643/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/b8ca8cd0befe4ae3a52d7cd5facc0408

المؤلفون: Denervaud, Solange, Korff, Christian, Fluss, Joel Victor, Kalser, Judith, Roulet-Perez, Eliane, Hagmann, Patric, Lebon, Sébastien

المصدر: ISSN: 0920-1211 ; Epilepsy research, vol. 177 (2021) 106771.

مصطلحات موضوعية: info:eu-repo/classification/ddc/618, Epilepsy with myoclonic atonic seizures (Doose syndrome), Local gyrification index, MRI, Brain / diagnostic imaging, Child, Preschool, Electroencephalography, Epilepsy / complications, Female, Humans, Magnetic Resonance Imaging, Prospective Studies, Seizures / complications, Seizures / diagnostic imaging

Relation: info:eu-repo/semantics/altIdentifier/pmid/34562678; https://archive-ouverte.unige.ch/unige:170778; unige:170778

الاتاحة: https://archive-ouverte.unige.ch/unige:170778

المؤلفون: Kim, Soo Yeon, Jang, Se Song, Kim, Jong-Il, Kim, Hunmin, Hwang, Hee, Choi, Ji Eun, Chae, Jong-Hee, Kim, Ki Joong, Lim, Byung Chan

المساهمون: Kim, Jong-Il, Hwang, Hee, Choi, Ji Eun, Chae, Jong-Hee, Kim, Ki Joong

مصطلحات موضوعية: MYOCLONIC-ASTATIC EPILEPSY, ABSENCE EPILEPSY, INTELLECTUAL DISABILITY, MUTATIONS, DEFICIENCY, SEIZURES, Epilepsy with myoclonic-atonic seizures, Early onset absence epilepsy, Genetic testing

Relation: Seizure : the journal of the British Epilepsy Association, Vol.71, pp.222-228; https://hdl.handle.net/10371/198159; 000491641400038; 2-s2.0-85070236490; 89035

الاتاحة: https://hdl.handle.net/10371/198159
https://doi.org/10.1016/j.seizure.2019.07.024

المؤلفون: M. B. Mironov, K. Yu. Mukhin, T. M. Krasilschikova, A. F. Dolinina, A. S. Petrukhin

المصدر: Эпилепсия и пароксизмальные состояния, Vol 5, Iss 3, Pp 24-33 (2016)

مصطلحات موضوعية: myoclonic-atonic seizures, myatonic, myoclonic-astatic, doose syndrome, myoclonic-astatic epilepsy, symptomatic epilepsy, secondary bilateral synchrony, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.epilepsia.su/jour/article/view/119; https://doaj.org/toc/2077-8333; https://doaj.org/toc/2311-4088

URL الوصول: https://doaj.org/article/ee46dba0187b45369988554a8f369a77

المؤلفون: N. A. Shnayder, D. V. Dmitrenko, Yu. B. Govorina, E. A. Kantimirova, O. V. Alekseeva, A. A. Molgachev, A. A. Makarkin

المصدر: Неврология, нейропсихиатрия, психосоматика, Vol 7, Iss 3, Pp 40-45 (2015)

مصطلحات موضوعية: epilepsy, atonic seizures, differential diagnosis, double cortex syndrome, subcortical laminar heterotopia, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://nnp.ima-press.net/nnp/article/view/529; https://doaj.org/toc/2074-2711; https://doaj.org/toc/2310-1342

URL الوصول: https://doaj.org/article/f091b0f00a9e42749e917dfda5c5174c

المؤلفون: Yoshiko Hirano, Yui Otani, Hirokazu Oguni, Satoru Nagata, Susumu Ito, Aiko Nishikawa

المصدر: Epileptic Disorders. 23:706-712

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Electroencephalography, Epilepsies, Myoclonic, General Medicine, Audiology, medicine.disease, Motor seizures, body regions, Epilepsy, Neurology, Seizures, otorhinolaryngologic diseases, Myoclonic atonic seizures, Humans, Speech, Medicine, Myoclonic epilepsy, Ictal, In patient, Neurology (clinical), business, Retrospective Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d89304e37e9fe5da3857824a4cb45e35
https://doi.org/10.1684/epd.2021.1316

المؤلفون: Pinelopi Dragoumi, Fiona Chivers, Megan Brady, Sheila Craft, David Mushati, Gopalakrishnan Venkatachalam, Judith Helen Cross, Krishna B. Das

المصدر: Epilepsy and Behavior Case Reports, Vol 5, Iss C, Pp 31-33 (2016)

مصطلحات موضوعية: Myoclonic epilepsy, Myoclonic–atonic seizures, Myoclonic–astatic epilepsy, Doose syndrome, Video-telemetry, Childhood, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2213323215000419; https://doaj.org/toc/2213-3232

URL الوصول: https://doaj.org/article/8d0ab0e7482c401586005616f4f776d3