المؤلفون: Lal, Dennis, Reinthaler, Eva M., Dejanovici, Borislav, May, Patrick, Thiele, Holger, Lehesjoki, Anna-Elina, Schwarz, Gunter, Riesch, Erik, Ikram, M. Arfan, van Duijn, Cornelia M., Uitterlinden, Andre G., Hofman, Albert, Steinboeck, Hannelore, Gruber-Sedlmayr, Ursula, Neophytou, Birgit, Zara, Federico, Hahn, Andreas, Gormley, Padhraig, Becker, Felicitas, Weber, Yvonne G., Cilio, Maria Roberta, Kunz, Wolfram S., Krause, Roland, Zimprich, Fritz, Lemke, Johannes R., Nuernberg, Peter, Sander, Thomas, Lerche, Holger, Neubauer, Bernd A., Genetic Comm Italian League Agains, EuroEPINOMICS-CoGIE Consortium, Palotie, Aarno

المساهمون: Neuroscience Center, Research Programs Unit, Tutkimusryhmä Anna-Elina Lehesjoki, Research Programme for Molecular Neurology, Institute for Molecular Medicine Finland, Aarno Palotie / Principal Investigator, Genomics of Neurological and Neuropsychiatric Disorders

مصطلحات موضوعية: FEBRILE SEIZURES PLUS, NEURONAL SODIUM-CHANNEL, SEVERE MYOCLONIC EPILEPSY, GENERALIZED EPILEPSY, DRAVET SYNDROME, HEMIPLEGIC MIGRAINE, ITALIAN PATIENTS, MUTATION, GENE, PREVALENCE, 3112 Neurosciences, 3111 Biomedicine

وصف الملف: application/pdf

العلاقة: HL BN PN TS F. Zimprich received grants by the EuroEPINOMICS programme (DFG grant numbers: HL: LE1030/11-1, BN: BN416/5-1, PN: NU50/8-1, TS: SA434/5-1, FWF grant number: F. Zimprich: 1643-B09) within the EUROCORES framework of the European Science Foundation (ESF). The generation and management of genomics data for the Rotterdam Study are supported by the Netherlands Organization of Scientific Research NOW Investments (nr. 175.010.2005.011, 911-03-012) and the Netherlands Genomics Initiative (NGI)/NOW project nr. 050-060-810 (Netherlands Consortium for Healthy Ageing; NCHA). The authors thank the members of the Genomics Lab and the ERGO support team for their help in sampling the data and in creating the database, the study participants, the staff of the Rotterdam Study and the participating general practitioners and pharmacists. The Rotterdam Study is funded by Erasmus Medical Center and Erasmus University, Rotterdam, Netherlands Organization for the Health Research and Development (ZonMw), the Research Institute for Diseases in the Elderly (RIDE), the Ministry of Education, Culture and Science, the Ministry for Health, Welfare and Sports, the European Commission (DG XII), and the Municipality of Rotterdam. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.; Lal , D , Reinthaler , E M , Dejanovici , B , May , P , Thiele , H , Lehesjoki , A-E , Schwarz , G , Riesch , E , Ikram , M A , van Duijn , C M , Uitterlinden , A G , Hofman , A , Steinboeck , H , Gruber-Sedlmayr , U , Neophytou , B , Zara , F , Hahn , A , Gormley , P , Becker , F , Weber , Y G , Cilio , M R , Kunz , W S , Krause , R , Zimprich , F , Lemke , J R , Nuernberg , P , Sander , T , Lerche , H , Neubauer , B A , Genetic Comm Italian League Agains , EuroEPINOMICS-CoGIE Consortium & Palotie , A 2016 , ' Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes ' , PLoS One , vol. 11 , no. 3 , 0150426 . https://doi.org/10.1371/journal.pone.0150426Test; ORCID: /0000-0002-2527-5874/work/97266495; http://hdl.handle.net/10138/161347Test; 5d9a98f3-ba87-476a-8911-6b7939a551fa; 84962195598; 000372582800030

الإتاحة: http://hdl.handle.net/10138/161347Test

المؤلفون: Gemma L. Carvill, Krysta L. Engel, Aishwarya Ramamurthy, J. Nicholas Cochran, Jolien Roovers, Hannah Stamberger, Nicholas Lim, Amy L. Schneider, Georgie Hollingsworth, Dylan H. Holder, Brigid M. Regan, James Lawlor, Lieven Lagae, Berten Ceulemans, E. Martina Bebin, John Nguyen, Gregory S. Barsh, Sarah Weckhuysen, Miriam Meisler, Samuel F. Berkovic, Peter De Jonghe, Ingrid E. Scheffer, Richard M. Myers, Gregory M. Cooper, Heather C. Mefford, Pasquale Striano, Federico Zara, Ingo Helbig, Rikke S. Møller, Sarah von Spiczak, Hiltrud Muhle, Hande Caglayan, Katalin Sterbova, Dana Craiu, Dorota Hoffman, Anna-Elina Lehesjoki, Kaja Selmer, Christel Depienne, Johannes Lemke, Carla Marini, Renzo Guerrini, Bernd Neubauer, Tiina Talvik, Eric Leguern, Peter de Jonghe

المساهمون: EuroEPINOMICS Rare Epilepsy Syndro

المصدر: Møller, R S & EuroEPINOMICS Rare Epilepsy Syndrome, Myoclonic-Astatic Epilepsy, and Dravet Working Group 2018, ' Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies ', American Journal of Human Genetics, vol. 103, no. 6, pp. 1022-1029 . https://doi.org/10.1016/j.ajhg.2018.10.023Test
The American journal of human genetics

مصطلحات موضوعية: 0301 basic medicine, Male, SPLICE VARIANTS, PROTEIN, Epilepsies, Myoclonic, Sodium Channels, Transcriptome, Epilepsy, Exon, poison exon, 0302 clinical medicine, SCN1A, NEURONAL SODIUM-CHANNEL, BRAIN, Child, Genetics (clinical), Exome sequencing, Genetics, Genetics & Heredity, noncoding, Exons, Middle Aged, genome sequencing, Female, REGULATOR, Life Sciences & Biomedicine, Adult, Biology, 03 medical and health sciences, alternative splicing, Dravet syndrome, Report, medicine, Humans, Gene, Science & Technology, variant interpretation, Alternative splicing, epilepsy, Genetic Variation, medicine.disease, NAV1.1 Voltage-Gated Sodium Channel, 030104 developmental biology, DE-NOVO MUTATIONS, Neurodevelopmental Disorders, Human genome, Human medicine, 030217 neurology & neurosurgery

وصف الملف: Print

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ea831a5b15156ae4f875e499f7848fcTest
https://pubmed.ncbi.nlm.nih.gov/30526861Test

المؤلفون: Zhang, Yue-Hua, Burgess, Rosemary, Malone, Jodie P., Glubb, Georgie C., Helbig, Katherine L., Vadlamudi, Lata, Kivity, Sara, Afawi, Zaid, Bleasel, Andrew, Grattan-Smith, Padraic, Grinton, Bronwyn E., Bellows, Susannah T., Vears, Danya F., Damiano, John A., Goldberg-Stern, Hadassa, Korczyn, Amos D., Dibbens, Leanne M., Ruzzo, Elizabeth K., Hildebrand, Michael S., Berkovic, Samuel F., Scheffer, Ingrid E.

المساهمون: Scheffer, IE (reprint author), Univ Melbourne, Epilepsy Res Ctr, Dept Med, Austin Hlth, Melbourne, Vic, Australia., Scheffer, IE (reprint author), Univ Melbourne, Royal Childrens Hosp, Dept Paediat, Melbourne, Vic, Australia., Scheffer, IE (reprint author), Florey Inst Neurosci & Mental Hlth, Melbourne, Vic, Australia., Univ Melbourne, Epilepsy Res Ctr, Dept Med, Austin Hlth, Melbourne, Vic, Australia., Peking Univ, Hosp 1, Dept Pediat, Beijing, Peoples R China., Univ Queensland, Royal Brisbane & Womens Hosp, Ctr Clin Res, Dept Neurol, Brisbane, Qld, Australia., Schneider Childrens Med Ctr Israel, Petah Tiqwa, Israel., Tel Aviv Sourasky Med Ctr, Dept Neurol, Tel Aviv, Israel., Westmead Hosp, Westmead, NSW, Australia., Sydney Childrens Hosp, Dept Neurol, Randwick, NSW, Australia., Tel Aviv Univ, Dept Neurol, Tel Aviv, Israel., Univ Adelaide, Womens & Childrens Hosp, Adelaide, SA, Australia., Univ Calif Los Angeles, David Geffen Sch Med, Semel Inst, Ctr Neurobehav Genet, Los Angeles, CA 90095 USA., Univ Melbourne, Royal Childrens Hosp, Dept Paediat, Melbourne, Vic, Australia., Florey Inst Neurosci & Mental Hlth, Melbourne, Vic, Australia.

المصدر: SCI

مصطلحات موضوعية: IDIOPATHIC GENERALIZED EPILEPSY, CHILDHOOD ABSENCE EPILEPSY, NEURONAL SODIUM-CHANNEL, ILAE COMMISSION, MULTIPLEX FAMILIES, DRAVET SYNDROME, SCN1A MUTATION, POSITION PAPER, ENCEPHALOPATHIES, CLASSIFICATION

العلاقة: NEUROLOGY.2017,89(12),1210-1219.; 1904846; http://hdl.handle.net/20.500.11897/470821Test; WOS:000410928600009

الإتاحة: https://doi.org/20.500.11897/470821Test
https://doi.org/10.1212/WNL.0000000000004384Test
https://hdl.handle.net/20.500.11897/470821Test

المؤلفون: Lal, D., Reinthaler, E. M., Dejanovic, B., May, P., Thiele, H., Lehesjoki, A. . E., Schwarz, G., Riesch, E., Ikram, M. A., Van Duijn, C. M., Uitterlinden, A. G., Hofman, A., Steinböck, H., Gruber sedlmayr, U., Neophytou, B., Zara, F., Hahn, A., Gormley, P., Becker, F., Weber, Y. G., Cilio, M. R., Kunz, W. S., Krause, R., Zimprich, F., Lemke, J. R., Nürnberg, P., Sander, T., Lerche, H., Neubauer, B. A., Palotie, A., Ruppert, A. K., Suls, A., Siren, A., Koeleman, B., Haberlandt, E., Ronen, G. M., Caglayan, H., Hjalgrim, H., Muhle, H., Schulz, H., Helbig, I., Altmüller, J., Geldner, J., Schubert, J., Jabbari, K., Everett, K., Feucht, M., Balestri, M., Nothnagel, M., Striano, Pasquale, Møller, R. S., Nabbout, R., Balling, R., Baulac, S., Bianchi, A., La Neve, A., Minetti, Carlo, Giuseppe, C.

المساهمون: Neuroscience Center, Research Programs Unit, Anna-Elina Lehesjoki / Principal Investigator, Research Programme for Molecular Neurology, Institute for Molecular Medicine Finland, Aarno Palotie / Principal Investigator, Genomics of Neurological and Neuropsychiatric Disorders, Epidemiology, Neurology, Radiology & Nuclear Medicine, Internal Medicine, Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Luxembourg Centre for Systems Biomedicine (LCSB): Experimental Neurobiology (Balling Group) [research center]

المصدر: PLoS One (print), 11(3). Public Library of Science
PLoS ONE
PLoS ONE. San Franscisco, CA: Public Library of Science (2016).
Lal, D, Reinthaler, E M, Dejanovic, B, May, P, Thiele, H, Lehesjoki, A-E, Schwarz, G, Riesch, E, Ikram, M A, van Duijn, C M, Uitterlinden, A G, Hofman, A, Steinböck, H, Gruber-Sedlmayr, U, Neophytou, B, Zara, F, Hahn, A, Gormley, P, Becker, F, Weber, Y G, Cilio, M R, Kunz, W S, Krause, R, Zimprich, F, Lemke, J R, Nürnberg, P, Sander, T, Lerche, H, Neubauer, B A, Genetic Commission of the Italian League against Epilepsy, Hjalgrim, H & Møller, R S 2016, ' Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes ', P L o S One, vol. 11, no. 3, e0150426 . https://doi.org/10.1371/journal.pone.0150426Test
PLoS ONE, Vol 11, Iss 3, p e0150426 (2016)

مصطلحات موضوعية: 0301 basic medicine, Male, Genetics and Molecular Biology (all), FEBRILE SEIZURES PLUS, Disease, Pathogenesis, Bioinformatics, Pathology and Laboratory Medicine, Biochemistry, Epilepsy, Database and Informatics Methods, 0302 clinical medicine, Risk Factors, Medicine and Health Sciences, Medicine, SCN1A, Myoclonic Seizures, NEURONAL SODIUM-CHANNEL, MUTATION, Multidisciplinary, SEVERE MYOCLONIC EPILEPSY, Research Support, Non-U.S. Gov't, Medicine (all), Syndrome, Clinical Trial, 3. Good health, PREVALENCE, Multicenter Study, Neurology, Cohort, Female, Genetics & genetic processes [F10] [Life sciences], Génétique & processus génétiques [F10] [Sciences du vivant], Sequence Analysis, DRAVET SYNDROME, Research Article, Science, Mutation, Missense, Amino Acid Substitution, Case-Control Studies, Humans, NAV1.1 Voltage-Gated Sodium Channel, Agricultural and Biological Sciences (all), Biochemistry, Genetics and Molecular Biology (all), GENERALIZED EPILEPSY, Sequence Databases, Research and Analysis Methods, ITALIAN PATIENTS, 03 medical and health sciences, Dravet syndrome, Journal Article, Genetics, HEMIPLEGIC MIGRAINE, Tonic-Clonic Seizures, Generalized epilepsy, Molecular Biology Techniques, Sequencing Techniques, Molecular Biology, business.industry, Case-control study, 3112 Neurosciences, Biology and Life Sciences, Human Genetics, Epileptic Seizures, medicine.disease, GENE, Human genetics, 030104 developmental biology, Biological Databases, Epilepsy syndromes, Mutation Databases, Genetics of Disease, 3111 Biomedicine, Missense, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fe84aefa145b24319f7a4d235e944ddTest
http://hdl.handle.net/10138/161347Test

المؤلفون: Radwanski, P. B., Brunello, L., Veeraraghavan, R., Ho, H. T., Lou, Q., Makara, M. A., Belevych, A. E., Anghelescu, Mircea, al., et

المصدر: PCOM Scholarly Papers

مصطلحات موضوعية: Diastolic Ca2+ release, Neuronal Na+ channels, Ventricular arrhythmias, antiarrhythmic agent, calcium ion, calsequestrin, neuronal sodium channel, riluzole, ryanodine receptor, sn 6, sodium channel, sodium ion, tetrodotoxin, unclassified drug, animal cell, animal experiment, animal model, animal tissue, antiarrhythmic activity, arrhythmogenesis, Article, calcium signaling, calcium transport, catecholaminergic polymorphic ventricular tachycardia, cell synchronization, confocal microscopy, controlled study, diastolic calcium release, electrocardiogram, gene mutation

العلاقة: https://digitalcommons.pcom.edu/scholarly_papers/1527Test

الإتاحة: https://digitalcommons.pcom.edu/scholarly_papers/1527Test

المؤلفون: Zhang, Yue-Hua, Scheffer, Ingrid

المساهمون: Zhang, YH (reprint author), Peking Univ, Hosp 1, Dept Pediat, Beijing 100871, Peoples R China., Peking Univ, Hosp 1, Dept Pediat, Beijing 100871, Peoples R China., Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Melbourne, Vic 3010, Australia.

المصدر: SCI

مصطلحات موضوعية: NEURONAL SODIUM-CHANNEL, ABSENCE EPILEPSY, MUTATIONS, SCN1A, FAMILIES

العلاقة: NEUROLOGY ASIA.15(3-4).; 933205; http://hdl.handle.net/20.500.11897/305859Test; WOS:000281030100003

الإتاحة: https://doi.org/20.500.11897/305859Test
https://hdl.handle.net/20.500.11897/305859Test

المؤلفون: Young Ok Kim, Susannah Bellows, Jacinta M McMahon, Xenia Iona, John Damiano, Leanne Dibbens, Kent Kelley, Deepak Gill, J Helen Cross, Samuel F Berkovic, Ingrid E Scheffer

مصطلحات موضوعية: Adolescent, Adult, Age of Onset, Child, Child Development, Cognition Disorders, DNA Copy Number Variations, Electroencephalography, Epilepsies, Myoclonic, Female, Humans, Intellectual Disability, Molecular Sequence Data, Mutation, NAV1.1 Voltage-Gated Sodium Channel, Seizures, Science & Technology, Life Sciences & Biomedicine, Clinical Neurology, Pediatrics, Neurosciences & Neurology, MIGRATING PARTIAL SEIZURES, SEVERE MYOCLONIC EPILEPSY, NEURONAL SODIUM-CHANNEL, SCN1A MUTATION, INFANCY, PLUS

العلاقة: http://hdl.handle.net/10536/DRO/DU:30110663Test; https://figshare.com/articles/journal_contribution/Atypical_multifocal_Dravet_syndrome_lacks_generalized_seizures_and_may_show_later_cognitive_decline/20804587Test

الإتاحة: http://hdl.handle.net/10536/DRO/DU:30110663Test
https://figshare.com/articles/journal_contribution/Atypical_multifocal_Dravet_syndrome_lacks_generalized_seizures_and_may_show_later_cognitive_decline/20804587Test

المؤلفون: Winkel, KD, Tibballs, J, Molenaar, P, Lambert, G, Coles, P, Ross-Smith, M, Wiltshire, C, Fenner, PJ, Gershwin, LA, Hawdon, GM, Wright, CE, Angus, JA

المساهمون: W. P. Anderson

مصطلحات موضوعية: Carukia Barnesi, Catecholamines, Irukandji Syndrome, Jellyfish, Neuronal Sodium Channel, Noradrenaline, Sympathetic Nervous System, Venom, Pharmacology & Pharmacy, Physiology, Cubomedusan Chironex-fleckeri, Scorpion Envenomation, Clinical Implications, Partial-purification, Magnesium-sulfate, Nematocyst Venom, Toxic Material, Heart-failure, Sea Wasp, Beta(1)-adrenoceptor, 321003 Cardiology (incl. Cardiovascular Diseases), C1, 730106 Cardiovascular system and diseases

الإتاحة: https://doi.org/10.1111/j.1440-1681.2005.04258.xTest
https://espace.library.uq.edu.au/view/UQ:75557Test

المؤلفون: Ceulemans, B., CLAES, Lieve, Lagae, L.

المساهمون: Ceulemans, B., CLAES, Lieve, Lagae, L.

مصطلحات موضوعية: CHILDHOOD ABSENCE EPILEPSY, NEURONAL SODIUM-CHANNEL, GENERALIZED EPILEPSY, PLUS MAPS, SUBUNIT, LOCUS, GAMMA-2-SUBUNIT, INACTIVATION, DYSFUNCTION, ACTIVATION

العلاقة: Pediatric neurology, 30(4). p. 236-243; http://hdl.handle.net/1942/6364Test; 243; 236; 30; 000221138700002

الإتاحة: https://doi.org/10.1016/j.pediatrneurol.2003.10.012Test
http://hdl.handle.net/1942/6364Test

المؤلفون: Marini, C., Harkin, L. A., Wallace, R. H., Mulley, J. C., Scheffer, I. E., Berkovic, S. F.

مصطلحات موضوعية: Clinical Neurology, Neurosciences, Childhood Absence Epilepsy, Epilepsy, Gaba(a) Receptor, Genetics, Linkage Analysis, Idiopathic Generalized Epilepsies, Neuronal Sodium-channel, Susceptibility Gene, Chromosome 8q24, Plus, Convulsions, Linkage, Onset, Dysfunction, Subunit, 1109 Neurosciences, 110904 Neurology and Neuromuscular Diseases

الإتاحة: https://doi.org/10.1093/brain/awg018Test
https://espace.library.uq.edu.au/view/UQ:38778Test