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: Maccarana T; University of Padova, Padova, Italy., Pillon M; Pediatric Hematology, Oncology and Stem Cell Transplant Division, Department of Woman's and Child's Health, University-Hospital of Padova, Padova, Italy., Bertozzi V; University of Padova, Padova, Italy., Carraro E; Pediatric Hematology, Oncology and Stem Cell Transplant Division, Department of Woman's and Child's Health, University-Hospital of Padova, Padova, Italy., Cavallaro E; Pediatric Hematology, Oncology and Stem Cell Transplant Division, Department of Woman's and Child's Health, University-Hospital of Padova, Padova, Italy., Bonardi CM; Pediatric Intensive Care Unit, Department of Woman's and Child's Health, University-Hospital of Padova, Padova, Italy., Marchetto L; Pediatric Intensive Care Unit, Department of Woman's and Child's Health, University-Hospital of Padova, Padova, Italy., Reggiani G; Pediatric Hematology, Oncology and Stem Cell Transplant Division, Department of Woman's and Child's Health, University-Hospital of Padova, Padova, Italy., Tondo A; Meyer Children's Hospital IRCCS', Firenze, Italy., Rosa C; Meyer Children's Hospital IRCCS', Firenze, Italy., Comoretto RI; Department of Public Health and Pediatrics, University of Torino, Torino, Italy., Amigoni A; Pediatric Intensive Care Unit, Department of Woman's and Child's Health, University-Hospital of Padova, Padova, Italy., Biffi A; Pediatric Hematology, Oncology and Stem Cell Transplant Division, Department of Woman's and Child's Health, University-Hospital of Padova, Padova, Italy.

المصدر: Pediatric hematology and oncology [Pediatr Hematol Oncol] 2024 Jul 08, pp. 1-10. Date of Electronic Publication: 2024 Jul 08.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Informa Healthcare Country of Publication: England NLM ID: 8700164 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1521-0669 (Electronic) Linking ISSN: 08880018 NLM ISO Abbreviation: Pediatr Hematol Oncol Subsets: MEDLINE

المؤلفون: Rossini L; Pediatric Hematology, Oncology and Stem Cell Transplant Division, University Hospital of Padova, Padova, Italy.; Department of Women's and Children's Health, University Hospital of Padova, Padova, Italy., Bonardi CM; Pediatric Intensive Care Unit, Department of Women's and Children's Health, University Hospital of Padova, Via Giustiniani, 3, 35128, Padova, Italy. claudiamaria.bonardi@gmail.com., Bresolin S; Onco-Hematology, Stem Cell Transplant and Gene Therapy, Istituto di Ricerca Pediatrica Foundation - Città della Speranza, Padova, Italy., Trevisson E; Clinical Genetics Unit, Department of Women's and Children's Health, University Hospital of Padova, Padova, Italy., Marzollo A; Pediatric Hematology, Oncology and Stem Cell Transplant Division, University Hospital of Padova, Padova, Italy.

المصدر: Journal of clinical immunology [J Clin Immunol] 2024 Apr 16; Vol. 44 (4), pp. 100. Date of Electronic Publication: 2024 Apr 16.

نوع المنشور: Case Reports; Letter

بيانات الدورية: Publisher: Springer Country of Publication: Netherlands NLM ID: 8102137 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-2592 (Electronic) Linking ISSN: 02719142 NLM ISO Abbreviation: J Clin Immunol Subsets: MEDLINE

مواضيع طبية MeSH: Encephalitis, Herpes Simplex*/diagnosis, Humans

المؤلفون: Bonardi CM; Azienda Ospedale Università Padova, Padova, Italy., Nosadini M; Azienda Ospedale Università Padova, Padova, Italy., Lorenzoni G; Azienda Ospedale Università Padova, Padova, Italy., Tessari A; Azienda Ospedale Università Padova, Padova, Italy., Santoro L; Azienda Ospedale Università Padova, Padova, Italy., Pettenazzo A; Azienda Ospedale Università Padova, Padova, Italy., Gregori D; Azienda Ospedale Università Padova, Padova, Italy., Sartori S; Azienda Ospedale Università Padova, Padova, Italy., Amigoni A; Azienda Ospedale Università Padova, Padova, Italy.

المصدر: Clinical pediatrics [Clin Pediatr (Phila)] 2023 Dec 24, pp. 99228231220174. Date of Electronic Publication: 2023 Dec 24.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Sage Publications Country of Publication: United States NLM ID: 0372606 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1938-2707 (Electronic) Linking ISSN: 00099228 NLM ISO Abbreviation: Clin Pediatr (Phila) Subsets: MEDLINE

المؤلفون: Ancora C; Pediatric Neurology and Neurophysiology Unit, Department of Women's and Children's Health, University of Padua, Padua, Italy., Marchi M; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padua, Padua, Italy; Clinical Genetics Lab, Città della Speranza Pediatric Research Institute, Padua, Italy., Bonardi CM; Pediatric Neurology and Neurophysiology Unit, Department of Women's and Children's Health, University of Padua, Padua, Italy., Sartori G; Department of Biomedical Sciences, University of Padua, Padua, Italy., Lopreiato R; Department of Biomedical Sciences, University of Padua, Padua, Italy., Zuccarello D; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padua, Padua, Italy., D'Errico I; Department of Neurosciences, University of Padua, Padua, Italy., Nosadini M; Pediatric Neurology and Neurophysiology Unit, Department of Women's and Children's Health, University of Padua, Padua, Italy., Sartori S; Pediatric Neurology and Neurophysiology Unit, Department of Women's and Children's Health, University of Padua, Padua, Italy., Boniver C; Pediatric Neurology and Neurophysiology Unit, Department of Women's and Children's Health, University of Padua, Padua, Italy., Toldo I; Pediatric Neurology and Neurophysiology Unit, Department of Women's and Children's Health, University of Padua, Padua, Italy. Electronic address: irene.toldo@unipd.it., Salviati L; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padua, Padua, Italy; Clinical Genetics Lab, Città della Speranza Pediatric Research Institute, Padua, Italy.

المصدر: Pediatric neurology [Pediatr Neurol] 2023 Nov; Vol. 148, pp. 152-156. Date of Electronic Publication: 2023 Aug 19.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE

المؤلفون: Paolin C; Pediatric Intensive Care Unit, Department of Women's and Children's Health, University Hospital of Padova, via Giustiniani 3, 35128, Padua, Italy., Zanetto L; Pediatric Intensive Care Unit, Department of Women's and Children's Health, University Hospital of Padova, via Giustiniani 3, 35128, Padua, Italy., Frison S; Pediatric Intensive Care Unit, Department of Women's and Children's Health, University Hospital of Padova, via Giustiniani 3, 35128, Padua, Italy., Boscolo Mela F; Pediatric Intensive Care Unit, Department of Women's and Children's Health, University Hospital of Padova, via Giustiniani 3, 35128, Padua, Italy., Tessari A; Pediatric Intensive Care Unit, Department of Women's and Children's Health, University Hospital of Padova, via Giustiniani 3, 35128, Padua, Italy., Amigoni A; Pediatric Intensive Care Unit, Department of Women's and Children's Health, University Hospital of Padova, via Giustiniani 3, 35128, Padua, Italy., Daverio M; Pediatric Intensive Care Unit, Department of Women's and Children's Health, University Hospital of Padova, via Giustiniani 3, 35128, Padua, Italy. marco.daverio@aopd.veneto.it., Bonardi CM; Pediatric Intensive Care Unit, Department of Women's and Children's Health, University Hospital of Padova, via Giustiniani 3, 35128, Padua, Italy.

المصدر: European journal of pediatrics [Eur J Pediatr] 2023 May; Vol. 182 (5), pp. 2089-2094. Date of Electronic Publication: 2023 Mar 13.

نوع المنشور: Review; Journal Article

بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1076 (Electronic) Linking ISSN: 03406199 NLM ISO Abbreviation: Eur J Pediatr Subsets: MEDLINE

مواضيع طبية MeSH: COVID-19*/complications , COVID-19*/therapy, Child ; Infant ; Humans ; Apnea/therapy ; SARS-CoV-2 ; Intensive Care Units ; Hospitalization

المؤلفون: Bonardi CM; Paediatric Intensive Care Unit, Department of Woman's and Child's Health, Padua University Hospital, Padua, Italy., Furlanis GM; Paediatric and Functional Neurosurgery Unit, Padua University Hospital, Padua, Italy., Toldo I; Paediatric Neurology and Neurophysiology Unit, Department of Woman's and Child's Health, Padua University Hospital, Padua, Italy., Guarrera B; Paediatric and Functional Neurosurgery Unit, Padua University Hospital, Padua, Italy., Luisi C; Department of Neurosciences (DNS), University of Padua, Padua, Italy; Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE, Rome, Italy., Pettenazzo A; Paediatric Intensive Care Unit, Department of Woman's and Child's Health, Padua University Hospital, Padua, Italy., Nosadini M; Paediatric Neurology and Neurophysiology Unit, Department of Woman's and Child's Health, Padua University Hospital, Padua, Italy., Boniver C; Paediatric Neurology and Neurophysiology Unit, Department of Woman's and Child's Health, Padua University Hospital, Padua, Italy., Sartori S; Paediatric Neurology and Neurophysiology Unit, Department of Woman's and Child's Health, Padua University Hospital, Padua, Italy; Department of Neurosciences (DNS), University of Padua, Padua, Italy. Electronic address: stefano.sartori@unipd.it., Landi A; Paediatric and Functional Neurosurgery Unit, Padua University Hospital, Padua, Italy; Department of Neurosciences (DNS), University of Padua, Padua, Italy.

المصدر: Brain & development [Brain Dev] 2023 May; Vol. 45 (5), pp. 293-299. Date of Electronic Publication: 2023 Jan 30.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 7909235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-7131 (Electronic) Linking ISSN: 03877604 NLM ISO Abbreviation: Brain Dev Subsets: MEDLINE

مواضيع طبية MeSH: Cannabidiol*/therapeutic use , Vagus Nerve Stimulation* , Status Epilepticus*/drug therapy , Status Epilepticus*/diagnosis , Drug Resistant Epilepsy*/diagnosis , Encephalitis*/complications , Immune System Diseases*/complications, Child ; Female ; Humans ; Adolescent ; Seizures/complications

المؤلفون: Rychkov GY; Clinical and Health Sciences, Australian Centre for Precision Health, University of South Australia, Adelaide, SA 5000, Australia.; School of Biomedicine, University of Adelaide, Adelaide, SA 5005, Australia.; South Australian Health and Medical Research Institute, Adelaide, SA 5005, Australia., Shaukat Z; Clinical and Health Sciences, Australian Centre for Precision Health, University of South Australia, Adelaide, SA 5000, Australia., Lim CX; Clinical and Health Sciences, Australian Centre for Precision Health, University of South Australia, Adelaide, SA 5000, Australia., Hussain R; Clinical and Health Sciences, Australian Centre for Precision Health, University of South Australia, Adelaide, SA 5000, Australia., Roberts BJ; Clinical and Health Sciences, Health and Biomedical Innovation, University of South Australia, Adelaide, SA 5000, Australia., Bonardi CM; Department of Woman's and Child's Health, Padua University Hospital, 35128 Padua, Italy.; The Danish Epilepsy Centre, 4293 Dianalund, Denmark., Rubboli G; Denmark Department of Clinical Medicine, Copenhagen University Hospital, 2200 Copenhagen, Denmark., Meaney BF; Division of Neurology, Department of Paediatrics, McMaster University, Hamilton, ON 8SL 4L8, Canada., Whitney R; Division of Neurology, Department of Paediatrics, McMaster University, Hamilton, ON 8SL 4L8, Canada., Møller RS; Department of Epilepsy Genetics and Personalized Treatment, Member of the ERN EpiCARE, The Danish Epilepsy Centre, 4293 Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, 5000 Odense, Denmark., Ricos MG; Clinical and Health Sciences, Australian Centre for Precision Health, University of South Australia, Adelaide, SA 5000, Australia., Dibbens LM; Clinical and Health Sciences, Australian Centre for Precision Health, University of South Australia, Adelaide, SA 5000, Australia.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2022 Dec 01; Vol. 23 (23). Date of Electronic Publication: 2022 Dec 01.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Nerve Tissue Proteins*/metabolism , Epilepsy*/genetics, Humans ; Potassium Channels, Sodium-Activated/genetics ; HEK293 Cells ; Mutation ; Potassium/metabolism

المؤلفون: Poletto E; Department of Woman's and Child's Health, University Hospital of Padua, Padua, Italy., Cavagnero F; Department of Woman's and Child's Health, University Hospital of Padua, Padua, Italy., Pettenazzo M; Department of Woman's and Child's Health, University Hospital of Padua, Padua, Italy., Visentin D; Department of Woman's and Child's Health, University Hospital of Padua, Padua, Italy., Zanatta L; Department of Woman's and Child's Health, University Hospital of Padua, Padua, Italy., Zoppelletto F; Department of Woman's and Child's Health, University Hospital of Padua, Padua, Italy., Pettenazzo A; Pediatric Intensive Care Unit, Department of Woman's and Child's Health, University Hospital of Padua, Padua, Italy., Daverio M; Pediatric Intensive Care Unit, Department of Woman's and Child's Health, University Hospital of Padua, Padua, Italy., Bonardi CM; Pediatric Intensive Care Unit, Department of Woman's and Child's Health, University Hospital of Padua, Padua, Italy.

المصدر: Frontiers in pediatrics [Front Pediatr] 2022 Oct 14; Vol. 10, pp. 1044681. Date of Electronic Publication: 2022 Oct 14 (Print Publication: 2022).

نوع المنشور: Published Erratum

بيانات الدورية: Publisher: Frontiers Media SA Country of Publication: Switzerland NLM ID: 101615492 Publication Model: eCollection Cited Medium: Print ISSN: 2296-2360 (Print) Linking ISSN: 22962360 NLM ISO Abbreviation: Front Pediatr Subsets: PubMed not MEDLINE

المؤلفون: Johannesen KM; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Center, 4293 Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, 5230 Odense, Denmark., Liu Y; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany., Koko M; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany., Gjerulfsen CE; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Center, 4293 Dianalund, Denmark., Sonnenberg L; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany.; Institute for Neurobiology, University of Tuebingen, 72072 Tuebingen, Germany., Schubert J; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany., Fenger CD; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Center, 4293 Dianalund, Denmark., Eltokhi A; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany., Rannap M; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany., Koch NA; Institute for Neurobiology, University of Tuebingen, 72072 Tuebingen, Germany., Lauxmann S; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany.; Institute for Neurobiology, University of Tuebingen, 72072 Tuebingen, Germany., Krüger J; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany., Kegele J; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany., Canafoglia L; Department of Diagnostics and Technology, Fondazione IRCCS Istituto Neurologio Carlo Besta, 20125 Milan, Italy., Franceschetti S; Department of Diagnostics and Technology, Fondazione IRCCS Istituto Neurologio Carlo Besta, 20125 Milan, Italy., Mayer T; Epilepsy Center Kleinwachau, 01454 Dresden-Radeberg, Germany., Rebstock J; Epilepsy Center Kleinwachau, 01454 Dresden-Radeberg, Germany., Zacher P; Epilepsy Center Kleinwachau, 01454 Dresden-Radeberg, Germany., Ruf S; Department of Pediatric Neurology and Developmental Medicine, University Children's Hospital, 72072 Tuebingen, Germany., Alber M; Department of Pediatric Neurology and Developmental Medicine, University Children's Hospital, 72072 Tuebingen, Germany., Sterbova K; Department of Child Neurology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, 10000 Prague, Czech Republic., Lassuthová P; Department of Child Neurology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, 10000 Prague, Czech Republic., Vlckova M; Department of Child Neurology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, 10000 Prague, Czech Republic., Lemke JR; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, 4275 Leipzig, Germany., Platzer K; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, 4275 Leipzig, Germany., Krey I; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, 4275 Leipzig, Germany., Heine C; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, 4275 Leipzig, Germany., Wieczorek D; Institute of Human Genetics, University Clinic, Heinrich-Heine-University, 40210 Düsseldorf, Germany., Kroell-Seger J; Children's Department, Swiss Epilepsy Centre, Clinic Lengg, 8001 Zurich, Switzerland., Lund C; National Centre for Rare Epilepsy-Related Disorders, Oslo University Hospital, 0001 Oslo, Norway., Klein KM; Departments of Clinical Neurosciences, Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2P 0A1, Canada., Au PYB; Department of Medical Genetics, Alberta Children's Hospital Research Institute, University of Calgary, AB T6G 2T4, Canada., Rho JM; Section of Pediatric Neurology, Alberta Children's Hospital, Cumming School of Medicine, University of Calgary, Calgary, AB T2P 0A1, Canada., Ho AW; Section of Pediatric Neurology, Alberta Children's Hospital, Cumming School of Medicine, University of Calgary, Calgary, AB T2P 0A1, Canada., Masnada S; Department of Child Neurology, V. Buzzi Children's Hospital, 20125 Milan, Italy., Veggiotti P; Department of Child Neurology, V. Buzzi Children's Hospital, 20125 Milan, Italy.; 'L. Sacco' Department of Biomedical and Clinical Sciences, University of Milan, 20157 Milan, Italy., Giordano L; Child Neuropsychiatric Unit, Civilian Hospital, 25100 Brescia, Italy., Accorsi P; Child Neuropsychiatric Unit, Civilian Hospital, 25100 Brescia, Italy., Hoei-Hansen CE; Department of Pediatrics, Copenhagen University Hospital Rigshospitalet, 2200 Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, 2200 Copenhagen, Denmark., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16121 Genova, Italy.; IRCCS 'G. Gaslini' Institute, 16121 Genoa, Italy., Zara F; IRCCS 'G. Gaslini' Institute, 16121 Genoa, Italy., Verhelst H; Department of Pediatrics, Division of Pediatric Neurology, Gent University Hospital, 9042 Gent, Belgium., Verhoeven JS; Academic Center for Epileptology, Kempenhaeghe/Maastricht University Medical Center, 5591 Heeze, The Netherlands., Braakman HMH; Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, 6525 Nijmegen, The Netherlands., van der Zwaag B; Department of Genetics, University Medical Center Utrecht, Utrecht University, 3553 Utrecht, The Netherlands., Harder AVE; Department of Genetics, University Medical Center Utrecht, Utrecht University, 3553 Utrecht, The Netherlands., Brilstra E; Department of Genetics, University Medical Center Utrecht, Utrecht University, 3553 Utrecht, The Netherlands., Pendziwiat M; Department of Neuropediatrics, Universitätsklinikum Schleswig Holstein Campus Kiel, 24106 Kiel, Germany., Lebon S; Pediatric Neurology and Neurorehabilitation Unit, Woman Mother Child Department, Lausanne University Hospital (CHUV), 1000 Lausanne, Switzerland.; University of Lausanne, 1000 Lausanne, Switzerland., Vaccarezza M; Department of Pediatric Neurology, Hospital Italiano de Buenos Aires, C1428 Buenos Aires, Argentina., Le NM; Center for Pediatric Neurology, Cleveland Clinic, Cleveland, OH 44102, USA., Christensen J; Department of Neurology, Aarhus University Hospital, 8000 Aarhus, Denmark., Grønborg S; Center for Rare Diseases, Department of Pediatrics and Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, 2200 Copenhagen, Denmark., Scherer SW; McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, ON 66777, Canada.; The Centre for Applied Genomics and Department of Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON 66777, Canada., Howe J; Department of Neuropediatrics, University Hospital Bonn, 53229 Bonn, Germany., Fazeli W; Institute for Molecular and Behavioral Neuroscience, University of Cologne, 50667 Cologne, Germany.; Neurology Department, The Royal Children's Hospital Melbourne, 3002 Melbourne, Australia., Howell KB; Neurology Department, The Royal Children's Hospital Melbourne, 3002 Melbourne, Australia.; Murdoch Children's Research Institute, 3052 Parkville, Australia.; Department of Pediatrics, University of Melbourne, Royal Children's Hospital, 3052 Parkville, Australia., Leventer R; Neurology Department, The Royal Children's Hospital Melbourne, 3002 Melbourne, Australia.; Murdoch Children's Research Institute, 3052 Parkville, Australia.; Department of Pediatrics, University of Melbourne, Royal Children's Hospital, 3052 Parkville, Australia., Stutterd C; Murdoch Children's Research Institute, 3052 Parkville, Australia.; Department of Pediatrics, University of Melbourne, Royal Children's Hospital, 3052 Parkville, Australia., Walsh S; Department of Neuropediatrics, Children's Hospital, University Hospital Carl Gustav Carus, Technical University, 1099 Dresden, Germany., Gerard M; Genetics Department, CHU Côte de Nacre, 14118 Caen, France., Gerard B; Genetics Department, CHRU Strasbourg, 67000 Strasbourg, France., Matricardi S; Child Neurology and Psychiatry Unit, Children's Hospital G. 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المصدر: Brain : a journal of neurology [Brain] 2022 Sep 14; Vol. 145 (9), pp. 2991-3009.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; 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, Generalized*/drug therapy , Epilepsy, Generalized*/genetics , Epileptic Syndromes*/drug therapy , Epileptic Syndromes*/genetics , Intellectual Disability*/genetics , NAV1.6 Voltage-Gated Sodium Channel*/genetics, Genetic Association Studies ; Humans ; Infant ; Mutation ; Prognosis ; Seizures/drug therapy ; Seizures/genetics ; Sodium Channel Blockers/therapeutic use