المؤلفون: Kazushi Aoto, Mitsuhiro Kato, Tenpei Akita, Mitsuko Nakashima, Hiroki Mutoh, Noriyuki Akasaka, Jun Tohyama, Yoshiko Nomura, Kyoko Hoshino, Yasuhiko Ago, Ryuta Tanaka, Orna Epstein, Revital Ben-Haim, Eli Heyman, Takehiro Miyazaki, Hazrat Belal, Shuji Takabayashi, Chihiro Ohba, Atsushi Takata, Takeshi Mizuguchi, Satoko Miyatake, Noriko Miyake, Atsuo Fukuda, Naomichi Matsumoto, Hirotomo Saitsu

المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-17 (2021)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/7bc108343b5a4de8a62d1fd709f2183f

المؤلفون: Shuji Takabayashi, Hiroki Mutoh, Naomichi Matsumoto, Mitsuhiro Kato, Takeshi Mizuguchi, Mitsuko Nakashima, Yasuhiko Ago, Revital Ben-Haim, Kazushi Aoto, Atsuo Fukuda, Kyoko Hoshino, Hirotomo Saitsu, Noriyuki Akasaka, Yoshiko Nomura, Noriko Miyake, Eli Heyman, Atsushi Takata, Hazrat Belal, Orna Epstein, Tenpei Akita, Takehiro Miyazaki, Jun Tohyama, Satoko Miyatake, Chihiro Ohba, Ryuta Tanaka

المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-17 (2021)

مصطلحات موضوعية: 0301 basic medicine, Multidisciplinary, biology, Protein subunit, ATPase, Science, Mutant, General Physics and Astronomy, General Chemistry, Embryonic stem cell, Synaptic vesicle, General Biochemistry, Genetics and Molecular Biology, Cell biology, 03 medical and health sciences, chemistry.chemical_compound, 030104 developmental biology, 0302 clinical medicine, chemistry, Organelle, biology.protein, Missense mutation, Neurotransmitter, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d66b51633843a8fae49fd8c91a93dbd6
https://doaj.org/article/7bc108343b5a4de8a62d1fd709f2183f

المؤلفون: Eli Heyman, Eli Lahat, Mirit Lazinger, Revital Gandelman-Marton, Orna Epstein, Matitiahu Berkovitch, Noa Levin

المصدر: Developmental Medicine & Child Neurology. 59:441-444

مصطلحات موضوعية: Male, Drug Resistant Epilepsy, Pediatrics, medicine.medical_specialty, Adolescent, Medical Records Systems, Computerized, Pyridones, Antiepileptic drug, 03 medical and health sciences, Perampanel, chemistry.chemical_compound, 0302 clinical medicine, Developmental Neuroscience, Nitriles, Humans, Medicine, 030212 general & internal medicine, Child, Adverse effect, Retrospective Studies, business.industry, Medical record, Infant, Retrospective cohort study, Paediatric neurology clinic, Treatment Outcome, Tolerability, chemistry, Child, Preschool, Anesthesia, Pediatrics, Perinatology and Child Health, Refractory epilepsy, Anticonvulsants, Female, Neurology (clinical), business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2bd854236f1ef0249309a82e3796a4e
https://doi.org/10.1111/dmcn.13362

المؤلفون: Kazushi, Aoto, Mitsuhiro, Kato, Tenpei, Akita, Mitsuko, Nakashima, Hiroki, Mutoh, Noriyuki, Akasaka, Jun, Tohyama, Yoshiko, Nomura, Kyoko, Hoshino, Yasuhiko, Ago, Ryuta, Tanaka, Orna, Epstein, Revital, Ben-Haim, Eli, Heyman, Takehiro, Miyazaki, Hazrat, Belal, Shuji, Takabayashi, Chihiro, Ohba, Atsushi, Takata, Takeshi, Mizuguchi, Satoko, Miyatake, Noriko, Miyake, Atsuo, Fukuda, Naomichi, Matsumoto, Hirotomo, Saitsu

المصدر: Nature Communications

مصطلحات موضوعية: Neurons, Brain Diseases, Brain Mapping, Neurotransmitter Agents, Vacuolar Proton-Translocating ATPases, Autophagosomes, Mutation, Missense, Brain, Mechanistic Target of Rapamycin Complex 1, Cathepsin D, Magnetic Resonance Imaging, Article, Cell Line, Mice, HEK293 Cells, Loss of Function Mutation, Genetics, Animals, Humans, Synaptic Vesicles, Lysosomes, Neuroscience

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::741d13345238d1e6f03e32f3f37cc28f
https://pubmed.ncbi.nlm.nih.gov/33833240

المؤلفون: Shimrit Uliel-Siboni, Eli Hyman, Dorit Granot, Tali Lerman-Sagie, Uri Kramer, Omer Bar Yosef, Michal Tzadok, Bruria Ben-Zeev, Andrea Nissenkorn, Shay Menascu, Ilan Linder, Orna Epstein, Michael Dor

المصدر: Seizure. 35:41-44

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, medicine.medical_treatment, Population, Clinical Neurology, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, medicine, education, education.field_of_study, business.industry, Retrospective cohort study, General Medicine, Drug Resistant Epilepsy, medicine.disease, Regimen, 030104 developmental biology, Neurology, Anesthesia, Cohort, Neurology (clinical), business, Cannabidiol, 030217 neurology & neurosurgery, medicine.drug, Ketogenic diet

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8e792d8acf5eb0f9b030826913f7738

المؤلفون: Michael Field, Andreas Tzschach, Eric H. Kossoff, Kazuhiro Haginoya, Lubov Blumkin, Orna Epstein, David Geneviève, Sara Kivity, Marjolaine Willems, Ayelet Zerem, Cheryl Shoubridge, Elizabeth E. Palmer, Tjitske Kleefstra, Hirotomo Saitsu, Naomichi Matsumoto, David Chitayat, Amélie Piton, Jackie Boyle, Sarah Dugan, Dorit Lev, Tally Lerman-Sagie, Alice Masurel-Paulet, Ilan Linder, Eli Heyman, Esther Leshinsky-Silver, Frederic Tran-Mau-Them, Ryo Sato, Rolph Pfundt, William D. Gaillard

المساهمون: Département de génétique médicale, maladies rares et médecine personnalisée [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Diagnostic Génétique [CHU Strasbourg], Université de Strasbourg (UNISTRA)-CHU Strasbourg

المصدر: Epilepsia, 57, 1858-1869
Epilepsia, 57, 11, pp. 1858-1869
Epilepsia
Epilepsia, Wiley, 2016, 57 (11), pp.1858-1869. ⟨10.1111/epi.13560⟩

مصطلحات موضوعية: Adult, Male, Exome sequencing, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Adolescent, Intellectual disability, Cohort Studies, Young Adult, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, medicine, Guanine Nucleotide Exchange Factors, Humans, Child, Strabismus, Psychiatry, Genetic Association Studies, X-linked, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Epileptic encephalopathy, business.industry, Seizure types, Brain, Electroencephalography, medicine.disease, Magnetic Resonance Imaging, Hypotonia, 3. Good health, Epileptic spasms, Phenotype, 030104 developmental biology, Neurology, Child, Preschool, Mutation, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neurology (clinical), medicine.symptom, business, Developmental regression, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55f1485ae4c125f0429f9c045576f076
http://hdl.handle.net/2066/168221

المؤلفون: Ruth Parvari, Orna Epstein, Auni Khahil, Tzvy Bistritzer, Marianna Rachmiel, Eli Hershkoviz

المصدر: Hormone Research in Paediatrics. 75:362-366

مصطلحات موضوعية: Adult, Male, Proband, Delayed puberty, medicine.medical_specialty, Pediatrics, Adolescent, Endocrinology, Diabetes and Metabolism, Physical examination, Diabetes Complications, Diagnosis, Differential, Young Adult, Endocrinology, Basal Ganglia Diseases, Antibody Profile, Intellectual Disability, Internal medicine, Diabetes mellitus, Genotype, Diabetes Mellitus, medicine, Humans, Family, Age of Onset, Israel, Puberty, Delayed, medicine.diagnostic_test, business.industry, Hypogonadism, Extended family, Alopecia, Arrhythmias, Cardiac, Woodhouse–Sakati syndrome, medicine.disease, Arabs, Pedigree, Pediatrics, Perinatology and Child Health, Female, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::571d360d5090e61aa6bd4ba117f3d497
https://doi.org/10.1159/000323441

المؤلفون: Michal, Tzadok, Shimrit, Uliel-Siboni, Ilan, Linder, Uri, Kramer, Orna, Epstein, Shay, Menascu, Andrea, Nissenkorn, Omer Bar, Yosef, Eli, Hyman, Dorit, Granot, Michael, Dor, Tali, Lerman-Sagie, Bruria, Ben-Zeev

المصدر: Seizure. 35

مصطلحات موضوعية: Male, Drug Resistant Epilepsy, Treatment Outcome, Adolescent, Child, Preschool, Humans, Infant, Anticonvulsants, Female, Medical Marijuana, Israel, Child, Retrospective Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::1c68751dd71175d7c8b1ddc742457db1
https://pubmed.ncbi.nlm.nih.gov/26800377

المؤلفون: Eli Heyman, Revital Gandelman-Marton, Eli Lahat, Noa Levin, Orna Epstein

المصدر: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 18(6)

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Phenylcarbamates, Video Recording, Felbamate, Epilepsy, Interictal eeg, medicine, Humans, Aplastic anemia, Child, Retrospective Studies, Seizure frequency, business.industry, Liver failure, Infant, Electroencephalography, General Medicine, medicine.disease, Treatment Outcome, Propylene Glycols, Anesthesia, Child, Preschool, Pediatrics, Perinatology and Child Health, Refractory epilepsy, Anticonvulsants, Female, Neurology (clinical), business, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42850d3891a4243e5d0942cfd5cb1132
https://pubmed.ncbi.nlm.nih.gov/24906615

المؤلفون: Yariv, Doron, Orna, Epstein, Eli, Heyman, Eli, Lahat

المصدر: Harefuah. 152(1)

مصطلحات موضوعية: Depressive Disorder, Major, Epilepsy, Adolescent, Mental Disorders, Quality of Life, Humans, Family, Comorbidity, Child, Anxiety Disorders

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::1116efd37d71219480467e6e0ea069b9
https://pubmed.ncbi.nlm.nih.gov/23461027