Understanding neurodevelopmental trajectories and behavioral profiles in SCN1A-related epilepsy syndromes.

Autor: Postma A; Department of Psychiatry and Brain Center, University Medical Center Utrecht, the Netherlands. Electronic address: a.postma-4@umcutrecht.nl., Minderhoud CA; Department of Child Neurology, Brain Center, University Medical Center Utrecht, the Netherlands. Member of ERN EpiCare., Otte WM; Department of Child Neurology, Brain Center, University Medical Center Utrecht, the Netherlands. Member of ERN EpiCare., Jansen FE; Department of Child Neurology, Brain Center, University Medical Center Utrecht, the Netherlands. Member of ERN EpiCare., Gunning WB; Karakter Child- and Adolescent Psychiatry, Almelo, Nijmegen, the Netherlands; Stichting Epilepsie Instellingen Nederland, Zwolle, the Netherlands., Verhoeven JS; Department of Child Neurology, Academic Centre for Epileptology Kempenhaeghe, Heeze, the Netherlands., Jongmans MJ; Department of Pedagogical and Educational Sciences, Faculty of Social and Behavioral Sciences, Utrecht University, the Netherlands; Department of Neonatology, Wilhelmina Children's Hospital, University Medical Center Utrecht, the Netherlands., Zinkstok JR; Department of Psychiatry and Brain Center, University Medical Center Utrecht, the Netherlands; Karakter Child- and Adolescent Psychiatry, Almelo, Nijmegen, the Netherlands; Department of Psychiatry, Radboud University Medical Center, Nijmegen, the Netherlands., Brilstra EH; Department of Genetics and Brain Center, University Medical Center Utrecht, the Netherlands.

Publikováno v: Epilepsy & behavior : E&B [Epilepsy Behav] 2024 May; Vol. 154, pp. 109726. Date of Electronic Publication: 2024 Mar 20.

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.

Autor: 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. Salesi, 60121 Ancona, Italy., Bonardi CM; Department of Woman's and Child's Health, Padova University Hospital, 35100 Padova, Italy., Sartori S; Child Neurology and Clinical Neurophysiology Unit, Padova University Hospital, 35100 Padova, Italy., Berger A; Department of Neuropediatrics, Klinikum Weiden, Kliniken Nordoberpfalz AG, 92637 Weiden, Germany., Hoffman-Zacharska D; Department of Medical Genetics, Institute of Mother and Child, 00-034 Warsaw, Poland., Mastrangelo M; Pediatric Neurology Unit, Vittore Buzzi Hospital, ASST Fatebenefratelli Sacco, 20100 Milan, Italy., Darra F; Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, 37121 Verona, Italy., Vøllo A; Department of Pediatrics, Oestfold Hospital, 1712 Graalum, Norway., Motazacker MM; Laboratory of Genome Diagnostics, Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, 1019 Amsterdam, Netherlands., Lakeman P; Department of Clinical Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam UMC, University of Amsterdam, 1019 Amsterdam, Netherlands., Nizon M; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France., Betzler C; Clinic for Neuropediatrics and Neurorehabilitation, Epilepsy Center for Children and Adolescents, Schön Klinik, 83569 Vogtareuth, Germany.; Research Institute 'Rehabilitation, Transition, Palliation', PMU Salzburg, 5020 Salzburg, Austria., Altuzarra C; Department of Pediatrics, St. Jacques Hospital, 25000 Besançon, France., Caume R; Clinique de Génétique Guy Fontaine, CHU Lille, 59000, Lille, France., Roubertie A; Département de Neuropédiatrie, INSERM, CHU Montpellier, 34000 Montpellier, France., Gélisse P; Département de Neuropédiatrie, INSERM, CHU Montpellier, 34000 Montpellier, France., Marini C; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, 50131 Florence, Italy., Guerrini R; IRCCS Stella Maris, 56121 Pisa, Italy., Bilan F; Service de Génétique, Centre Hospitalier Universitaire de Poitiers, 86021 Poitiers, France., Tibussek D; Child Neurology, Center for Pediatric and Teenage Health Care, 53757 Sankt Augustin, Germany., Koch-Hogrebe M; Vestische Kinder- und Jugendklinik, 45711 Datteln, Germany., Perry MS; Justin Neurosciences Center, Cook Children's Medical Center, Fort Worth, TX 76101, USA., Ichikawa S; Department of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, CA 92637, USA., Dadali E; Research Centre for Medical Genetics, 115522 Moscow, Russia.; Veltischev Research and Clinical Institute for Pediatrics, Pirogov Russian National Research Medical University, 125412 Moscow, Russia., Sharkov A; Veltischev Research and Clinical Institute for Pediatrics, Pirogov Russian National Research Medical University, 125412 Moscow, Russia.; Genomed Ltd., 100000 Moscow, Russia., Mishina I; Research Centre for Medical Genetics, 115522 Moscow, Russia., Abramov M; Veltischev Research and Clinical Institute for Pediatrics, Pirogov Russian National Research Medical University, 125412 Moscow, Russia., Kanivets I; Svt. Luka's Institute of Child Neurology & Epilepsy, 100000 Moscow, Russia.; Russian Medical Academy of Continuous Professional Education, 100000 Moscow, Russia., Korostelev S; Svt. Luka's Institute of Child Neurology & Epilepsy, 100000 Moscow, Russia.; I.M. Sechenov First Moscow State Medical University, 100000 Moscow, Russia., Kutsev S; Research Centre for Medical Genetics, 115522 Moscow, Russia., Wain KE; Geisinger Autism & Developmental Medicine Institute, Lewisburg, PA 17837, USA., Eisenhauer N; Geisinger Autism & Developmental Medicine Institute, Lewisburg, PA 17837, USA., Wagner M; Geisinger Autism & Developmental Medicine Institute, Lewisburg, PA 17837, USA., Savatt JM; Geisinger Autism & Developmental Medicine Institute, Lewisburg, PA 17837, USA., Müller-Schlüter K; Epilepsy Center for Children, University Hospital Neuruppin, Brandenburg Medical School, 16816 Neuruppin, Germany., Bassan H; Pediatric Neurology & Development Center, Shamir Medical Center (Assaf Harofe), Be'er Ya'akov, Israel.; Sackler Faculty of Medicine, Tel Aviv University, 5296001 Tel Aviv, Israel., Borovikov A; Research Centre for Medical Genetics, 115522 Moscow, Russia., Nassogne MC; Pediatric Neurology Unit, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, 1000 Brussels, Belgium., Destrée A; Institute for Pathology and Genetics, 6040 Gosselies, Belgium., Schoonjans AS; Department of Pediatrics and Pediatric Neurology, Antwerp University Hospital, University of Antwerp, 2650 Edegem, Belgium., Meuwissen M; Pediatric Neurology, Marie Curie Hospital-CHU Charleroi, 6032 Charleroi, Belgium., Buzatu M; Pediatric Neurology, Marie Curie Hospital-CHU Charleroi, 6032 Charleroi, Belgium., Jansen A; Pediatric Neurology Unit, Department of Pediatrics, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, 1050 Brussels, Belgium., Scalais E; Pediatric Neurology Unit, Department of Pediatrics, Centre Hospitalier de Luxembourg, 1313 Luxembourg, Luxembourg., Srivastava S; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA 02108, USA., Tan WH; Department of Genetics, Boston Children's Hospital, Boston, MA 02108, USA., Olson HE; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA 02108, USA.; Epilepsy Genetics Program, Boston Children's Hospital, Boston, MA 02108, USA., Loddenkemper T; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA 02108, USA., Poduri A; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA 02108, USA.; Epilepsy Genetics Program, Boston Children's Hospital, Boston, MA 02108, USA., Helbig KL; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy Neurogenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Helbig I; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy Neurogenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA 19104USA.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104USA.; Institute of Clinical Molecular Biology, Kiel University, 24105 Kiel, Germany.; Department of Neuropediatrics, Kiel University, 24105 Kiel, Germany., Fitzgerald MP; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy Neurogenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA 19104USA.; Institute of Clinical Molecular Biology, Kiel University, 24105 Kiel, Germany., Goldberg EM; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy Neurogenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Roser T; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Haunersches Children's Hospital, Ludwig-Maximilian-University of Munich, 80331 Munich, Germany., Borggraefe I; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Haunersches Children's Hospital, Ludwig-Maximilian-University of Munich, 80331 Munich, Germany.; Comprehensive Epilepsy Center, Ludwig-Maximilian- University of Munich, 80331 Munich, Germany., Brünger T; Luxembourg Centre for Systems Biomedicine (LCSB), University Luxembourg, L-4243 Esch-sur-Alzette, Luxembourg., May P; Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44102, USA., Lal D; Luxembourg Centre for Systems Biomedicine (LCSB), University Luxembourg, L-4243 Esch-sur-Alzette, Luxembourg.; Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH 44102, USA.; Stanley Center for Psychiatric Research, Broad Institute of Harvard and M.I.T ., Cambridge, MA 02138, USA.; Cologne Center for Genomics (CCG), University of Cologne, 50667 Cologne, Germany., Lederer D; Institute for Pathology and Genetics, 6040 Gosselies, Belgium., Rubboli G; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Center, 4293 Dianalund, Denmark.; University of Copenhagen, 2200 Copenhagen, Denmark., Heyne HO; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, 4275 Leipzig, Germany.; Finnish Institute for Molecular Medicine (FIMM), University of Helsinki, 320 Helsinki, Finland.; Program for Medical and Population Genetics/Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02138, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02108, USA., Lesca G; Department of Medical Genetics, Groupement Hospitalier Est and ERN EpiCARE, University Hospitals of Lyon (HCL), 69001 Lyon, France.; Institut Neuromyogène, CNRS UMR 5310 - INSERM U1217, Université de Lyon, Université Claude Bernard Lyon 1, 69001 Lyon, France., Hedrich UBS; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany., Benda J; Institute for Neurobiology, University of Tuebingen, 72072 Tuebingen, Germany., Gardella E; 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., Lerche H; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany., Møller RS; 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.

Publikováno v: Brain : a journal of neurology [Brain] 2022 Sep 14; Vol. 145 (9), pp. 2991-3009.

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.

Autor: Stamberger H; Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Melbourne, VIC, Australia.; Applied and Translational Neurogenomics group, Center for Molecular Neurology, VIB, and Department of Neurology, University Hospital of Antwerp, University of Antwerp, Antwerpen, Belgium., Hammer TB; Department of Epilepsy Genetics, Danish Epilepsy Centre Filadelfia, Dianalund, Denmark.; Clinical Genetic Department, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Gardella E; Department of Epilepsy Genetics, Danish Epilepsy Centre Filadelfia, Dianalund, Denmark.; Institute for Regional Health Services Research, University of Southern Denmark, Odense, Denmark., Vlaskamp DRM; Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Melbourne, VIC, Australia.; University of Groningen, University Medical Center Groningen, Department of Neurology, Groningen, the Netherlands.; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands., Bertelsen B; Center for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Mandelstam S; Royal Children's Hospital, Melbourne, VIC, Australia.; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Pediatrics, University of Melbourne, Melbourne, VIC, Australia.; Department of Radiology, University of Melbourne, Melbourne, VIC, Australia.; Florey Institute of Neuroscience and Mental Health, Melbourne, VIC, Australia., de Lange I; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Zhang J; Department of Pediatrics, Peking University First Hospital, Beijing, China., Myers CT; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA., Fenger C; Department of Epilepsy Genetics, Danish Epilepsy Centre Filadelfia, Dianalund, Denmark., Afawi Z; Tel Aviv University Medical School, Tel Aviv, Israel., Almanza Fuerte EP; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA., Andrade DM; Division of Neurology, Toronto Western Hospital, University of Toronto, Toronto, ON, Canada., Balcik Y; Epilepsy Center Frankfurt Rhine-Main, Center of Neurology and Neurosurgery, University Hospital Frankfurt, and Center for Personalized Translational Epilepsy Research (CePTER), Goethe-University Frankfurt, Frankfurt am Main, Germany., Ben Zeev B; Edmond and Lily Safra Children's Hospital, Pediatric Neurology Unit, Tel-Hashomer, Israel.; Tel Aviv University, Sackler School of Medicine, Tel Aviv, Israel., Bennett MF; Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Melbourne, VIC, Australia.; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; Department of Medical Biology University of Melbourne, Melbourne, VIC, Australia., Berkovic SF; Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Melbourne, VIC, Australia., Isidor B; Service de génétique médicale, CHU Nantes, Nantes, France., Bouman A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Brilstra E; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Busk ØL; Section for Medical Genetics, Telemark Hospital, Skien, Norway., Cairns A; Department of Neurosciences, Queensland Children's Hospital, Brisbane, QLD, Australia., Caumes R; Service de Neuropédiatrie, Pôle de Médecine et Spécialités Médicales, CHRU de Lille, Lille, France., Chatron N; Lyon University Hospitals, Departments of Genetics, Lyon, France., Dale RC; T.Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Faculty of Medicine and Health, University of Sydney, Sydney, Australia., de Geus C; University Medical Centre Groningen, Department of Genetics, Groningen, The Netherlands., Edery P; Lyon University Hospitals, Departments of Genetics, Lyon, France.; INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, GENDEV Team, Bron, France., Gill D; T.Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Faculty of Medicine and Health, University of Sydney, Sydney, Australia., Granild-Jensen JB; Child and Youth, Randers Regional Hospital, Randers, Denmark., Gunderson L; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Gunning B; Stichting Epilepsie Instellingen Nederland, Zwolle, The Netherlands., Heimer G; Edmond and Lily Safra Children's Hospital, Pediatric Neurology Unit, Tel-Hashomer, Israel.; Tel Aviv University, Sackler School of Medicine, Tel Aviv, Israel., Helle JR; Section for Medical Genetics, Telemark Hospital, Skien, Norway., Hildebrand MS; Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Melbourne, VIC, Australia.; Murdoch Children's Research Institute, Melbourne, VIC, Australia., Hollingsworth G; Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Melbourne, VIC, Australia., Kharytonov V; Clinical Hospital 'Psychiatry', Kyiv, Ukraine., Klee EW; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., Koeleman BPC; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Koolen DA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Korff C; Pediatric Neurology Unit, University Hospitals, Geneva, Switzerland., Küry S; Service de génétique médicale, CHU Nantes, Nantes, France., Lesca G; Lyon University Hospitals, Departments of Genetics, Lyon, France., Lev D; Tel Aviv University, Sackler School of Medicine, Tel Aviv, Israel.; Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel., Leventer RJ; Royal Children's Hospital, Melbourne, VIC, Australia.; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Pediatrics, University of Melbourne, Melbourne, VIC, Australia., Mackay MT; Royal Children's Hospital, Melbourne, VIC, Australia.; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Pediatrics, University of Melbourne, Melbourne, VIC, Australia., Macke EL; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., McEntagart M; Medical Genetics, St George's University Hospitals NHS FT, Cranmer Tce, London, United Kingdom., Mohammad SS; T.Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Faculty of Medicine and Health, University of Sydney, Sydney, Australia., Monin P; Lyon University Hospitals, Departments of Genetics, Lyon, France., Montomoli M; Department of Neuroscience, Pharmacology and Child Health, Children's Hospital A. Meyer and University of Florence, Florence, Italy., Morava E; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., Moutton S; CPDPN, Pôle mère enfant, Maison de Santé Protestante Bordeaux Bagatelle, Talence, France.; INSERM UMR1231 GAD, FHU-TRANSLAD, Université de Bourgogne, Dijon, France., Muir AM; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA., Parrini E; Department of Neuroscience, Pharmacology and Child Health, Children's Hospital A. Meyer and University of Florence, Florence, Italy., Procopis P; T.Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Faculty of Medicine and Health, University of Sydney, Sydney, Australia.; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia., Ranza E; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland., Reed L; Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Reif PS; Epilepsy Center Frankfurt Rhine-Main, Center of Neurology and Neurosurgery, University Hospital Frankfurt, and Center for Personalized Translational Epilepsy Research (CePTER), Goethe-University Frankfurt, Frankfurt am Main, Germany., Rosenow F; Epilepsy Center Frankfurt Rhine-Main, Center of Neurology and Neurosurgery, University Hospital Frankfurt, and Center for Personalized Translational Epilepsy Research (CePTER), Goethe-University Frankfurt, Frankfurt am Main, Germany., Rossi M; Lyon University Hospitals, Departments of Genetics, Lyon, France.; INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, GENDEV Team, Bron, France., Sadleir LG; Department of Paediatrics and Child Health, University of Otago Wellington, Wellington, New Zealand., Sadoway T; Division of Neurology, Toronto Western Hospital, University of Toronto, Toronto, ON, Canada., Schelhaas HJ; Stichting Epilepsie Instellingen Nederland, Zwolle, The Netherlands., Schneider AL; Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Melbourne, VIC, Australia., Shah K; One Centre of Genetics, Vadodara, India., Shalev R; Neuropaediatric Unit, Shaare Zedek Medical Centre, Hebrew University School of Medicine, Jerusalem, Israel., Sisodiya SM; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom and Chalfont Centre for Epilepsy, Bucks, UK., Smol T; Institut de Génétique Médicale, Hopital Jeanne de Flandre, Lille University Hospital, Lille, France., Stumpel CTRM; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands., Stuurman K; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Symonds JD; Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK.; College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UK., Mau-Them FT; UF Innovation en diagnostic genomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; INSERM UMR1231 GAD, Dijon, France., Verbeek N; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Verhoeven JS; Academic Center for Epileptology, Kempenhaege, Department of Neurology, Heeze, The Netherlands., Wallace G; Department of Neurosciences, Queensland Children's Hospital, Brisbane, QLD, Australia.; School of Medicine, University of Queensland, Brisbane, QLD, Australia., Yosovich K; Molecular Genetics Lab, Wolfson Medical Center, Holon, Israel., Zarate YA; Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, AR, USA., Zerem A; Tel Aviv University, Sackler School of Medicine, Tel Aviv, Israel.; White Matter Disease Care, Pediatric Neurology Unit, Dana-Dwak Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Zuberi SM; Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK.; College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UK., Guerrini R; Department of Neuroscience, Pharmacology and Child Health, Children's Hospital A. Meyer and University of Florence, Florence, Italy., Mefford HC; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA., Patel C; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia., Zhang YH; Department of Pediatrics, Peking University First Hospital, Beijing, China., Møller RS; Department of Epilepsy Genetics, Danish Epilepsy Centre Filadelfia, Dianalund, Denmark.; Institute for Regional Health Services Research, University of Southern Denmark, Odense, Denmark., Scheffer IE; Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Melbourne, VIC, Australia. i.scheffer@unimelb.edu.au.; Royal Children's Hospital, Melbourne, VIC, Australia. i.scheffer@unimelb.edu.au.; Murdoch Children's Research Institute, Melbourne, VIC, Australia. i.scheffer@unimelb.edu.au.; Department of Pediatrics, University of Melbourne, Melbourne, VIC, Australia. i.scheffer@unimelb.edu.au.; Florey Institute of Neuroscience and Mental Health, Melbourne, VIC, Australia. i.scheffer@unimelb.edu.au.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Feb; Vol. 23 (2), pp. 363-373. Date of Electronic Publication: 2020 Nov 04.

Cardiac arrhythmias in Dravet syndrome: an observational multicenter study.

Autor: Shmuely S; Stichting Epilepsie Instellingen Nederland - SEIN, Achterweg 5, 2103 SW Heemstede, Dokter Denekampweg 20, 8025 BV, Zwolle, The Netherlands.; NIHR University College London Hospitals Biomedical Research Centre, UCL Queen Square Institute of Neurology, Queen Square, London, WC1N 3BG, UK., Surges R; Department of Epileptology, University Hospital Bonn, Bonn, Germany.; Centre for Rare Diseases Bonn (ZSEB), University Hospital Bonn, Bonn, Germany., Helling RM; Stichting Epilepsie Instellingen Nederland - SEIN, Achterweg 5, 2103 SW Heemstede, Dokter Denekampweg 20, 8025 BV, Zwolle, The Netherlands., Gunning WB; Stichting Epilepsie Instellingen Nederland - SEIN, Achterweg 5, 2103 SW Heemstede, Dokter Denekampweg 20, 8025 BV, Zwolle, The Netherlands., Brilstra EH; Department of Medical Genetics, University Medical Centre Utrecht, Heidelberglaan 100, 3584 CX, Utrecht, The Netherlands., Verhoeven JS; Academic Centre for Epileptology Kempenhaeghe, 5590AB Heeze, Heeze, The Netherlands., Cross JH; UCL NIHR BRC Great Ormond Street Institute of Child Health (ICH), 30 Guilford St, London, WC1N 1EH, UK., Sisodiya SM; NIHR University College London Hospitals Biomedical Research Centre, UCL Queen Square Institute of Neurology, Queen Square, London, WC1N 3BG, UK.; Chalfont Centre for Epilepsy, Bucks, SL9 0RJ, UK., Tan HL; Heart Centre, Department of Experimental and Clinical Cardiology, Amsterdam University Medical Centres, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Netherlands Heart Institute, Moreelsepark 1, 3511 EP, Utrecht, The Netherlands., Sander JW; Stichting Epilepsie Instellingen Nederland - SEIN, Achterweg 5, 2103 SW Heemstede, Dokter Denekampweg 20, 8025 BV, Zwolle, The Netherlands.; NIHR University College London Hospitals Biomedical Research Centre, UCL Queen Square Institute of Neurology, Queen Square, London, WC1N 3BG, UK.; Chalfont Centre for Epilepsy, Bucks, SL9 0RJ, UK., Thijs RD; Stichting Epilepsie Instellingen Nederland - SEIN, Achterweg 5, 2103 SW Heemstede, Dokter Denekampweg 20, 8025 BV, Zwolle, The Netherlands.; NIHR University College London Hospitals Biomedical Research Centre, UCL Queen Square Institute of Neurology, Queen Square, London, WC1N 3BG, UK.; Department of Neurology, Leiden University Medical Centre, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands.

Publikováno v: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2020 Apr; Vol. 7 (4), pp. 462-473. Date of Electronic Publication: 2020 Mar 24.

Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability.

Autor: Snoeijen-Schouwenaars FM; Department of Residential Care, Epilepsy Center Kempenhaeghe, Heeze, The Netherlands., van Ool JS; Department of Residential Care, Epilepsy Center Kempenhaeghe, Heeze, The Netherlands., Verhoeven JS; Academic Center for Epileptology Kempenhaeghe/Maastricht University Medical Center, Heeze, The Netherlands., van Mierlo P; Academic Center for Epileptology Kempenhaeghe/Maastricht University Medical Center, Heeze, The Netherlands., Braakman HMH; Academic Center for Epileptology Kempenhaeghe/Maastricht University Medical Center, Heeze, The Netherlands., Smeets EE; Department of Human Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Nicolai J; Academic Center for Epileptology Kempenhaeghe/Maastricht University Medical Center, Heeze, The Netherlands.; Department of Neurology, Maastricht University Medical Center, Maastricht, The Netherlands., Schoots J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Teunissen MWA; Academic Center for Epileptology Kempenhaeghe/Maastricht University Medical Center, Maastricht, The Netherlands., Rouhl RPW; Department of Neurology, Maastricht University Medical Center, Maastricht, The Netherlands.; Academic Center for Epileptology Kempenhaeghe/Maastricht University Medical Center, Maastricht, The Netherlands.; School for Mental Health and Neurosciences, Maastricht University, Maastricht, The Netherlands., Tan IY; Department of Residential Care, Epilepsy Center Kempenhaeghe, Heeze, The Netherlands., Yntema HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Brunner HG; Department of Human Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Stegmann AP; Department of Human Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Schelhaas HJ; Academic Center for Epileptology Kempenhaeghe/Maastricht University Medical Center, Heeze, The Netherlands., Willemsen MH; Department of Human Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

Publikováno v: Epilepsia [Epilepsia] 2019 Jan; Vol. 60 (1), pp. 155-164. Date of Electronic Publication: 2018 Dec 07.