المؤلفون: Judith Bluvstein, Susanna Wenniger

المصدر: Neurology and Therapy, Vol 12, Iss 2, Pp 343-350 (2023)

مصطلحات موضوعية: Dravet syndrome, Pediatrics, Caregiver, Clinician, Epilepsy, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2193-8253Test; https://doaj.org/toc/2193-6536Test

الوصول الحر: https://doaj.org/article/bce2afccbddf47bb84a4e29bc0eb578eTest

المؤلفون: Orrin Devinsky, LaToya King, Judith Bluvstein, Daniel Friedman

المصدر: Annals of Clinical and Translational Neurology, Vol 8, Iss 3, Pp 639-644 (2021)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

العلاقة: https://doi.org/10.1002/acn3.51306Test; https://doaj.org/toc/2328-9503Test; https://doaj.org/article/1225725f44ef4ef4b499fde702aba500Test

الإتاحة: https://doi.org/10.1002/acn3.51306Test
https://doaj.org/article/1225725f44ef4ef4b499fde702aba500Test

المؤلفون: Irena J.J. Muffels, Imre F. Schene, Holger Rehmann, Maarten P.G. Massink, Maria M. van der Wal, Corinna Bauder, Martha Labeur, Natalia G. Armando, Maarten H. Lequin, Michiel L. Houben, Jaques C. Giltay, Saskia Haitjema, Albert Huisman, Fleur Vansenne, Judith Bluvstein, John Pappas, Lala V. Shailee, Yuri A. Zarate, Michal Mokry, Gijs W. van Haaften, Edward E.S. Nieuwenhuis, Damian Refojo, Femke van Wijk, Sabine A. Fuchs, Peter M. van Hasselt

المصدر: Am. J. Hum. Genet. 110, 146-160 (2023)
Am J Hum Genet

مصطلحات موضوعية: Genetics, Lymphopenia, Nae1, Neddylation, Neurodegeneration, Ocurrence Ratio, Phenotypic Specificity, Post-translational Protein Modification, Proteasome, Ubiquitination, Article, Genetics (clinical)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c527b80bc5f1809a16c16e4c32929181Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=67154Test

المؤلفون: Judith Bluvstein, Suneeta Madan-Khetarpal, Daniel Groepper, Theodore Sheehan, Michael J. Lyons, Louise Bier, Julie Fleischer, Annapurna Poduri, Lynn Pais, Pascal Joset, Elena Infante, Evan H. Baugh, David Goldstein, Tristan T. Sands, Katharina Steindl, Pim Suwannarat, Cyril Mignot, Boris Keren, Matthew J. Ferber, Laura Schultz-Rogers, Natalie Lippa, Linda Hasadsri, Vinodh Narayanan, Maureen S. Mulhern, Alejandra Vasquez, Claudia A. L. Ruivenkamp, Marleen Simon, Susan M. White, Vimla Aggarwal, Eric W. Klee, Kristine K. Bachman, Lindsay C. Burrage, Caroline Nava, Nicholas Stong, Neil A. Hanchard, Josephine S.C. Chong, Anita Rauch, Renee Bend, Erin L. Heinzen, Sulagna Kushary, Marije Koopmans, Marissa S. Ellingson, Keri Ramsey, Raymond Yeh, Michelle E. Ernst, Ellen van Binsbergen, Sarah S. Barnett, Amanda Thomas, Kristin G. Monaghan, Eva H. Brilstra, Magalie S. Leduc, Weimin Bi, Jennifer A. Lee, Cigdem I. Akman, Sophie Mathieu, Andrea H. Seeley, Grazia M. S. Mancini

المساهمون: Clinical Genetics

المصدر: Epilepsia
Epilepsia, 62(7), e103-e109. Wiley-Blackwell Publishing Ltd
Epilepsia, 62(7), E103-E109. WILEY

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, CK2, Developmental Disabilities, Epilepsies, Myoclonic, Status epilepticus, casein kinase II, Article, MSNE, 03 medical and health sciences, Broad spectrum, Epilepsy, Young Adult, 0302 clinical medicine, Status Epilepticus, Intellectual Disability, Intellectual disability, medicine, Humans, Exome, Generalized epilepsy, Age of Onset, generalized epilepsy, Child, Exome sequencing, business.industry, Genetic Variation, Infant, medicine.disease, Young age, 030104 developmental biology, myoclonic status epilepticus, Phenotype, Neurology, Child, Preschool, Mutation, myoclonic seizures, Epilepsy, Generalized, Female, Neurology (clinical), medicine.symptom, Epilepsy severity, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ff1f7a4791f249c8207fa1b00bd1a82Test
https://pure.eur.nl/en/publications/397106a8-1886-4437-9d53-67a1bb04cf25Test

المؤلفون: Orrin Devinsky, Samuel F. Berkovic, Catharine Freyer, Annapurna Poduri, Eric B. Geller, Amos D. Korczyn, Heidi E. Kirsch, Nathan B. Fountain, Rosemary Burgess, Jack M. Parent, Jocelyn F. Bautista, Susannah T. Bellows, Robert C. Knowlton, David Goldstein, Dennis J. Dlugos, Heather C Mefford, Anthony G Marson, Mike Smith, Sabrina Cristofaro, Erin L. Heinzen, Bassel Abou-Khalil, Michael P. Epstein, Douglas E. Crompton, Eileen P.G. Vining, Kevin McKenna, Steven Petrou, Anu Venkat, Eric H. Kossoff, Gretchen Von Allmen, Sheryl R. Haut, Ruben Kuzniecky, Juliann M. Paolicchi, Colin A Ellis, Rani K. Singh, Simon Glynn, Daniel H. Lowenstein, Liu Lin Thio, Lynette G. Sadleir, Rebecca Loeb, Norman Delanty, Terence J. O'Brien, Paul V. Motika, Peter Widdess-Walsh, Sara Kivity, Gregory D. Cascino, Slavé Petrovski, Ruth Ottman, Micheline Gravel, Andrew S. Allen, Jerry J. Shih, Ingrid E. Scheffer, Joseph I Sirven, William O. Pickrell, Tracy A. Glauser, Judith L.Z. Weisenberg, Judith Bluvstein, Zaid Afawi, Phil Smith, Kevin F. Haas, Mark McCormack, Hadassa Goldberg-Stern, Sarah Paterson, Melodie R. Winawer, Mark I. Rees, Saul A. Mullen, Patrick Cossette, Rhys H. Thomas

المصدر: Epilepsia

مصطلحات موضوعية: Male, 0301 basic medicine, Concordance, Electroencephalography, Article, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, medicine, Humans, Medical history, Generalized epilepsy, medicine.diagnostic_test, Seizure types, business.industry, Family aggregation, medicine.disease, Latent class model, Pedigree, Phenotype, 030104 developmental biology, Neurology, Latent Class Analysis, Female, Neurology (clinical), business, Epileptic Syndromes, 030217 neurology & neurosurgery, Clinical psychology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2be0a227c5e6f4209ee0d125e80b4851Test
https://doi.org/10.1111/epi.16354Test

المؤلفون: Eyal, Lotan, Judith, Bluvstein, Elcin, Zan

المصدر: The Israel Medical Association journal : IMAJ. 22(7)

مصطلحات موضوعية: Brain Diseases, Adrenocorticotropic Hormone, Brain, Humans, Infant, Anticonvulsants, Drug Therapy, Combination, Female, Magnetic Resonance Imaging, Spasms, Infantile, Vigabatrin

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::701d74367d39d989ee773acf1fab0d60Test
https://pubmed.ncbi.nlm.nih.gov/33236576Test

المؤلفون: Elise Brimble, Ingrid Scheffer, Judith Bluvstein, Colleen Campbell, Samuel Berkovic, Laura Jansen, Susannah Cornes, Andrew Allen, Orrin Devinsky, Brenda Porter, Kristen Park, Nicholas Stong

المصدر: Genetics in Medicine

مصطلحات موضوعية: Male, 0301 basic medicine, SCN8A, Genotype, Sequence analysis, Population, Biology, 03 medical and health sciences, Exon, 0302 clinical medicine, medicine, Humans, Missense mutation, Amino Acid Sequence, Genetic Testing, whole-exome sequencing, education, Exome, Alleles, Genetic Association Studies, Genetics (clinical), Exome sequencing, Genetic testing, Sequence (medicine), Genetics, education.field_of_study, Epilepsy, Base Sequence, medicine.diagnostic_test, Brief Report, Exons, Sequence Analysis, DNA, 3. Good health, Alternative Splicing, Phenotype, epileptic encephalopathy, 030104 developmental biology, Amino Acid Substitution, NAV1.6 Voltage-Gated Sodium Channel, alternative exon, Mutation, Female, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f63f0d218be6c51463ad65d87c61c5ffTest
https://doi.org/10.1038/gim.2017.100Test

المؤلفون: Nidia Ortiz, Jacob Pellinen, Hunaid Hasan, Daniel K. Miles, Judith Bluvstein

المصدر: Neurol Clin Pract

مصطلحات موضوعية: medicine.medical_specialty, business.industry, media_common.quotation_subject, Case, Audiology, medicine.disease, Urination, Epilepsy, Frontal lobe seizures, Angelman syndrome, Reflex, Medicine, Defecation, In patient, Neurology (clinical), Differential diagnosis, business, media_common

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b443ca9df07c5b43dda0378e111eeb46Test
https://doi.org/10.1212/cpj.0000000000000692Test

المؤلفون: Daniel Friedman, Michael W. Karlovich, Elaine DeCarlo, Judith Bluvstein, Kelly G. Knupp, Orrin Devinsky, Patricia Tolete, Patricia Dugan, Erin Conway

المصدر: Neurology. 91:837-839

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Fenfluramine, media_common.quotation_subject, law.invention, Lorcaserin, 03 medical and health sciences, 0302 clinical medicine, Randomized controlled trial, Dravet syndrome, law, Weight loss, medicine, media_common, business.industry, Appetite, medicine.disease, Pulmonary hypertension, 3. Good health, 030104 developmental biology, Phentermine, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::dcad07650589c164835182b710c48413Test
https://doi.org/10.1212/wnl.0000000000006432Test

المؤلفون: Angus Wilfong, Joshi Charuta, Linda Laux, Eric D. Marsh, Judith Bluvstein, Michael A. Ciliberto, Orrin Devinsky, Jacqueline S. Gofshteyn

المصدر: Journal of Child Neurology. 32:35-40

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Pediatrics, business.industry, Encephalopathy, Febrile illness, Status epilepticus, medicine.disease, 03 medical and health sciences, Febrile infection related epilepsy syndrome, Epilepsy, 030104 developmental biology, 0302 clinical medicine, Pediatrics, Perinatology and Child Health, Ambulatory, Epilepsy syndromes, medicine, Neurology (clinical), medicine.symptom, business, Intensive care medicine, Cannabidiol, 030217 neurology & neurosurgery, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::38f06a1f8b5bb9d4c087b95f40fae676Test
https://doi.org/10.1177/0883073816669450Test