المؤلفون: Wolking, S, May, P, Mei, D, Møller, RS, Balestrini, S, Helbig, KL, Altuzarra, CD, Chatron, N, Kaiwar, C, Stöhr, K, Widdess-Walsh, P, Mendelsohn, BA, Numis, A, Cilio, MR, Van Paesschen, W, Svendsen, LL, Oates, S, Hughes, E, Goyal, S, Brown, K, Saenz, M, Dorn, T, Muhle, H, Pagnamenta, AT, Vavoulis, DV, Knight, SJL, Taylor, JC, Canevini, MP, Darra, F, Gavrilova, RH, Powis, Z, Tang, S, Marquetand, J, Armstrong, M, McHale, D, Klee, EW, Kluger, GJ, Lowenstein, DH, Weckhuysen, S, Pal, DK, Helbig, I, Guerrini, R, Thomas, RH, Rees, MI, Lesca, G, Sisodiya, SM, Weber, YG, Lal, D, Marini, C, Lerche, H, Schubert, J

المصدر: Wolking, S, May, P, Mei, D, Møller, R S, Balestrini, S, Helbig, K L, Altuzarra, C D, Chatron, N, Kaiwar, C, Stöhr, K, Widdess-Walsh, P, Mendelsohn, B A, Numis, A, Cilio, M R, Van Paesschen, W, Svendsen, L L, Oates, S, Hughes, E, Goyal, S, Brown, K, Sifuentes Saenz, M, Dorn, T, Muhle, H, Pagnamenta, A T, Vavoulis, D V, Knight, S J L, Taylor, J C, Canevini, M P, Darra, F, Gavrilova, R H, Powis, Z, Tang, S, Marquetand, J, Armstrong, M, McHale, D, Klee, E W, Kluger, G J, Lowenstein, D H, Weckhuysen, S, Pal, D K, Helbig, I, Guerrini, R, Thomas, R H, Rees, M I, Lesca, G, Sisodiya, S M, Weber, Y G, Lal, D, Marini, C, Lerche, H & Schubert, J 2019, ' Clinical spectrum of STX1B-related epileptic disorders ', Neurology, vol. 92, no. 11, pp. e1238-e1249 . https://doi.org/10.1212/WNL.0000000000007089
Neurology

مصطلحات موضوعية: Male, Drug Resistant Epilepsy, Adolescent, Developmental Disabilities, Mutation, Missense, Clinical Neurology, FEBRILE SEIZURES PLUS, GENERALIZED EPILEPSY, Syntaxin 1, PROTEIN, Article, Seizures, Febrile, Young Adult, Loss of Function Mutation, Humans, HETEROGENEITY, SCN1A, Child, Epilepstic disorders, Science & Technology, Learning Disabilities, Infant, Newborn, High-Throughput Nucleotide Sequencing, Infant, GENETIC-VARIATION, Electroencephalography, Sequence Analysis, DNA, SODIUM-CHANNEL, Epilepstic disorders, STX1B, Phenotype, DE-NOVO MUTATIONS, Child, Preschool, ONSET, STXBP1, STX1B, Anticonvulsants, Female, Human medicine, Epilepsies, Partial, Neurosciences & Neurology, Epileptic Syndromes, Life Sciences & Biomedicine

وصف الملف: Print-Electronic; application/pdf; pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::64082d157eff5d0457b6e34c87e55deb
http://ora.ox.ac.uk/objects/uuid:

المؤلفون: An-Sofie Schoonjans, Christina Fenger, Joseph Toulouse, Nathalie Villeneuve, Marie-Christine Nougues, Martina Fiannacca, Wen-Hann Tan, Rikke S. Møller, Boudewijn Gunning, Julitta de Bellescize, David Bearden, Federico Zara, Hiltrud Muhle, Gaetan Lesca, Sarah Weckhuysen, Guido Rubboli, Berten Ceulemans, Tobias Baumgartner, Frauke Hornemann, Steffen Syrbe, Leanne M. Dibbens, Hannah Stamberger, Catherine Sarret, Maria Margherita Mancardi, Edouard Hirsch, Salvatore Buono, Chiara Reale, Kern Olofsson, Elena Gardella, Claudia M Bonardi, Hélène Maurey, Henrike O. Heyne, Fabienne Picard, Stéphanie Baulac, Pasquale Striano, Geneviève Demarquay, Fabrice Bartolomei, Antonietta Coppola, Massimiliano Rossi, Vincent des Portes, Hester Y. Kroes, Mark Fitzgerald, Nienke E. Verbeek, David A. Koolen, Caroline Nava, Dorothée Ville, Marjolaine Willems, Cecilia Altuzarra

المساهمون: Bonardi, Claudia M, Heyne, Henrike O, Fiannacca, Martina, Fitzgerald, Mark P, Dibbens, Leanne, Rubboli, Guido, Institut Pascal (IP), Centre National de la Recherche Scientifique (CNRS)-Université Clermont Auvergne (UCA)-Institut national polytechnique Clermont Auvergne (INP Clermont Auvergne), Université Clermont Auvergne (UCA)-Université Clermont Auvergne (UCA), Bonardi, Cm, Heyne, Ho, Fiannacca, M, Fitzgerald, Mp, Gardella, E, Gunning, B, Olofsson, K, Lesca, G, Verbeek, N, Stamberger, H, Striano, P, Zara, F, Mancardi, Mm, Nava, C, Syrbe, S, Buono, S, Baulac, S, Coppola, A, Weckhuysen, S, Schoonjans, A, Ceulemans, B, Sarret, C, Baumgartner, T, Muhle, H, des Portes, V, Toulouse, J, Nougues, Mc, Rossi, M, Demarquay, G, Ville, D, Hirsch, E, Maurey, H, Willems, M, de Bellescize, J, Altuzarra, Cd, Villeneuve, N, Bartolomei, F, Picard, F, Hornemann, F, Koolen, Da, Kroes, Hy, Reale, C, Fenger, Cd, Tan, Wh, Dibbens, L, Bearden, Dr, Møller, R, Rubboli, G.

المصدر: Brain
Brain, 144, pp. 3635-3650
Bonardi, C M, Heyne, H O, Fiannacca, M, Fitzgerald, M P, Gardella, E, Gunning, B, Olofsson, K, Lesca, G, Verbeek, N, Stamberger, H, Striano, P, Zara, F, Mancardi, M M, Nava, C, Syrbe, S, Buono, S, Baulac, S, Coppola, A, Weckhuysen, S, Schoonjans, A-S, Ceulemans, B, Sarret, C, Baumgartner, T, Muhle, H, des Portes, V, Toulouse, J, Nougues, M-C, Rossi, M, Demarquay, G, Ville, D, Hirsch, E, Maurey, H, Willems, M, de Bellescize, J, Altuzarra, C D, Villeneuve, N, Bartolomei, F, Picard, F, Hornemann, F, Koolen, D A, Kroes, H Y, Reale, C, Fenger, C D, Tan, W-H, Dibbens, L, Bearden, D R, Møller, R S & Rubboli, G 2021, ' KCNT1-related epilepsies and epileptic encephalopathies : phenotypic and mutational spectrum ', Brain : a journal of neurology, vol. 144, no. 12, pp. 3635-3650 . https://doi.org/10.1093/brain/awab219
Brain, Vol. 144, No 12 (2021) pp. 3635-3650
Brain, 144, 3635-3650
Brain-A Journal of Neurology
Brain-A Journal of Neurology, 2021, 144 (12), pp.3635-3650. ⟨10.1093/brain/awab219⟩

مصطلحات موضوعية: Male, Potassium Channels, Adolescent, Genotype, KCNT1, Nerve Tissue Proteins, Potassium Channels, Sodium-Activated, Bioinformatics, Temporal lobe, Cohort Studies, 03 medical and health sciences, Epilepsy, Young Adult, 0302 clinical medicine, All institutes and research themes of the Radboud University Medical Center, medicine, epileptic encephalopathies, Missense mutation, Humans, Preschool, Child, 030304 developmental biology, 0303 health sciences, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Seizure types, business.industry, developmental and epileptic encephalopathies, epilepsy of infancy with migrating focal seizures, sleep-related hypermotor epilepsy, Child, Preschool, Female, Infant, Mutation, Phenotype, West Syndrome, medicine.disease, 3. Good health, ddc:616.8, Epileptic spasms, Cohort, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Sodium-Activated, Neurology (clinical), Human medicine, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5a5f969c528f80b314ded91f30e0ad4
https://pubmed.ncbi.nlm.nih.gov/36285205

المؤلفون: Bonardi CM; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Centre, member of the ERN EpiCARE, 4293 Dianalund, Denmark.; Department of Woman's and Child's Health, University Hospital of Padua, 35100 Padua, Italy., Heyne HO; Finnish Institute for Molecular Medicine: FIMM, University of Helsinki, 00290 Helsinki, Finland.; Program for Medical and Population Genetics, Broad Institute of MIT and Harvard, 02142 Cambridge, MA, USA., Fiannacca M; Radiology Department, University of Genoa, 16126 Genoa, Italy., Fitzgerald MP; Division of Neurology, Departments of Neurology and Pediatrics, The Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Gardella E; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Centre, member of the ERN EpiCARE, 4293 Dianalund, Denmark.; Institute of Regional Health Research, University of Southern Denmark, 5230 Odense, Denmark., Gunning B; Stichting Epilepsie Instellingen Nederland, Zwolle, 8025 BV, The Netherlands., Olofsson K; Department of Pediatric Neurology, Danish Epilepsy Center, 4293 Dianalund, Denmark., Lesca G; Department of Genetics, Hospices Civils de Lyon, 69002 Bron, France.; Institut NeuroMyoGène, CNRS UMR 5310 - INSERM U1217, Université Claude Bernard Lyon 1, 69008 Lyon, France., Verbeek N; Department of Genetics, University Medical Center, 3584 CX Utrecht, The Netherlands., Stamberger H; Neurogenetics Group, VIB-Center for Molecular Neurology, B-2610 Antwerp, Belgium.; Department of Neurology, University Hospital, 2650 Antwerp, Belgium., Striano P; IRCCS 'G. Gaslini' Institute, University of Genoa, 16147 Genoa, Italy., Zara F; IRCCS 'G. Gaslini' Institute, University of Genoa, 16147 Genoa, Italy., Mancardi MM; Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Nava C; Département de Génétique, APHP, GH Pitié-Salpêtrière, 75013 Paris, France., Syrbe S; Division of Pediatric Epileptology, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., Buono S; Neurology Division, Hospital of National Relevance (AORN), Santobono Pausilipon, 80122 Naples, Italy., Baulac S; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, F-75013, Paris, France., Coppola A; Department of Neuroscience and Reproductive and Odontostomatological Sciences, Federico II University, 80138 Naples, Italy., Weckhuysen S; Neurogenetics Group, VIB-Center for Molecular Neurology, B-2610 Antwerp, Belgium.; Department of Neurology, University Hospital, 2650 Antwerp, Belgium., Schoonjans AS; Department of Pediatric Neurology, Antwerp University Hospital, University of Antwerp, 2650 Edegem, Belgium., Ceulemans B; Department of Pediatric Neurology, Antwerp University Hospital, University of Antwerp, 2650 Edegem, Belgium., Sarret C; Service de Neuropédiatrie, CHU de Clermont-Ferrand, 6310 Clermont-Ferrand, France., Baumgartner T; Department of Epileptology, University of Bonn, D-53105 Bonn, Germany., Muhle H; Department of Neuropediatrics, University Medical Center Schleswig Holstein, 24105 Kiel, Germany., Portes VD; Neuropaediatrics Department, Femme Mère Enfant Hospital, 69500 Lyon, France., Toulouse J; Epileptology, Sleep Disorders and Functional Pediatric Neurology CHU Lyon, 69500 Bron, France., Nougues MC; Neuropaediatrics Department, Hospital Armand Trousseau, APHP, 75012 Paris, France., Rossi M; Department of Genetics, Hospices Civils de Lyon, 69002 Bron, France.; Lyon Neuroscience Research Center (CRNL), INSERM U1028, CNRS UMR5292, GENDEV Team, Claude Bernard Lyon 1 University, 69675 Bron, France., Demarquay G; Service de neurologie fonctionnelle et épileptologie, Neurological Hospital, 69677 Bron, France.; Lyon Neuroscience Research Center (CRNL), INSERM U1028, CNRS UMR5292, NeuroPain, 69677 Bron, France., Ville D; Pediatric Neurology Department, Lyon University Hospital, 69500 Bron, France., Hirsch E; Epilepsy Unit, Hautepierre Hospital, University of Strasbourg, 67100 Strasbourg, France., Maurey H; Department of Pediatric Neurology, Hopital Bicêtre, Le Kremlin-Bicêtre, 94270 Paris, France., Willems M; Department of Clinical Genetics, Arnaud de Villeneuve Hospital, 34090 Montpellier, France., de Bellescize J; Department of Pediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Hospices Civils de Lyon, 69677 Bron, Lyon, France., Altuzarra CD; Department of Pediatrics, St. Jacques Hospital, 25000 Besançon, France., Villeneuve N; Pediatric Neurology Department, Timone Children Hospital, 13005 Marseille, France., Bartolomei F; Epileptology Department, Timone Hospital, Public Assistance Hospitals of Marseille, Aix-Marseille University, 13005 Marseille, France., Picard F; Department of Clinical Neurosciences, University Hospitals and Faculty of Medicine, CH-1211 Geneva, Switzerland., Hornemann F; Centre of Pediatric Research, Hospital for Children and Adolescents, 04103 Leipzig, Germany., Koolen DA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center (Radboudumc), 6525 GA Nijmegen, The Netherlands., Kroes HY; Department of Genetics, University Medical Center, 3584 CX Utrecht, The Netherlands., Reale C; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Centre, member of the ERN EpiCARE, 4293 Dianalund, Denmark.; Department of Clinical and Experimental Medicine, University of Messina, 98122 Messina, Italy., Fenger CD; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Centre, member of the ERN EpiCARE, 4293 Dianalund, Denmark., Tan WH; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Dibbens L; Epilepsy Research Group, UniSA Clinical and Health Sciences, University of South Australia, and Australian Centre for Precision Health, SA 5001 Adelaide, Australia., Bearden DR; Division of Child Neurology, Department of Neurology, University of Rochester School of Medicine, Rochester, NY14642, USA., Møller RS; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Centre, member of the ERN EpiCARE, 4293 Dianalund, Denmark.; Institute of Regional Health Research, University of Southern Denmark, 5230 Odense, Denmark., Rubboli G; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Centre, member of the ERN EpiCARE, 4293 Dianalund, Denmark.; Institute of Clinical Medicine, University of Copenhagen, 2200 Copenhagen, Denmark.

المصدر: Brain : a journal of neurology [Brain] 2021 Dec 31; Vol. 144 (12), pp. 3635-3650.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

مواضيع طبية MeSH: Epilepsy/*genetics , Nerve Tissue Proteins/*genetics , Potassium Channels, Sodium-Activated/*genetics, Adolescent ; Child ; Child, Preschool ; Cohort Studies ; Female ; Genotype ; Humans ; Infant ; Male ; Mutation ; Phenotype ; Young Adult