Zobrazeno 1 - 10
of 81
pro vyhledávání: '"Ct, Myers"'
Autor:
Ec, Galizia, Ct, Myers, Costin Leu, Cg, Kovel, Afrikanova T, Ml, Cordero-Maldonado, Tg, Martins, Jacmin M, Drury S, Krishna Chinthapalli V, Muhle H, Pendziwiat M, Sander T, Ak, Ruppert, Rs, Møller, Thiele H, Krause R, Schubert J, Ae, Lehesjoki, Nürnberg P, Lerche H, EuroEPINOMICS CoGIE Consortium, Palotie A, Coppola A, Striano S, Ld, Gaudio, Boustred C, Al, Schneider, Lench N, Jocic-Jakubi B, Covanis A, Capovilla G, Veggotti P, Piccioli M, Parisi P, Cantonetti L, Lg, Sadleir, Sa, Mullen, Sf, Berkovic, Stephani U, Helbig I, Ad, Crawford, Cv, Esguerra, Dg, Kasteleijn-Nolst Trenité, Bp, Koeleman, Hc, Mefford, Ie, Scheffer, Sm, Sisodiya
Publikováno v:
Europe PubMed Central
Brain
Brain
Photosensitivity is a heritable abnormal cortical response to flickering light, manifesting as particular electroencephalographic changes, with or without seizures. Photosensitivity is prominent in a very rare epileptic encephalopathy due to de novo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::bfebb7b7a67a5b1767321d372419498b
http://europepmc.org/abstract/med/25783594
http://europepmc.org/abstract/med/25783594
Autor:
Viswanathan S; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia.; Department of Paediatrics, Hospital Pulau Pinang, George Town, Malaysia., Oliver KL; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia.; Population Health and Immunity Division, the Walter and Eliza Hall Institute of Medical Research, Parkville, Australia.; Department of Medical Biology, the University of Melbourne, Melbourne, Australia., Regan BM; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia., Schneider AL; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia., Myers CT; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, Washington, USA., Mehaffey MG; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, Washington, USA.; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA., LaCroix AJ; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA., Antony J; T.Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Faculty of Medicine and Health, University of Sydney, Sydney, Australia., Webster R; T.Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Faculty of Medicine and Health, University of Sydney, Sydney, Australia., Cardamone M; Department of Paediatric Neurology, Sydney Children's Hospital, Randwick; School of Clinical Medicine, UNSW Sydney, Sydney, Australia., Subramanian GM; Department of Paediatric Neurology, John Hunter Children's Hospital, New Lambton Heights, Australia., Chiu ATG; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia., Roza E; Faculty of Medicine, Clinical Neurosciences Department, Paediatric Neurology, Carol Davila University of Medicine and Pharmacy, București, Romania.; Pediatric Neurology Department, Dr. Victor Gomoiu Children's Hospital, București, Romania., Teleanu RI; Faculty of Medicine, Clinical Neurosciences Department, Paediatric Neurology, Carol Davila University of Medicine and Pharmacy, București, Romania.; Pediatric Neurology Department, Dr. Victor Gomoiu Children's Hospital, București, Romania., Malone S; Centre for Advanced Imaging, University of Queensland, St Lucia, Australia.; Neurosciences Department, Queensland Children's Hospital, South Brisbane, Australia., Leventer RJ; Department of Neurology, Royal Children's Hospital, University of Melbourne, Melbourne, Australia.; Neuroscience Research Group, Murdoch Children's Research Institute, Melbourne, Australia., 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.; Kids Neuroscience Centre, Kids Research Institute, Sydney, Australia., Berkovic SF; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia., Hildebrand MS; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia.; Neuroscience Research Group, Murdoch Children's Research Institute, Melbourne, Australia., Goad BS; Department of Neurology, Royal Children's Hospital, University of Melbourne, Melbourne, Australia.; Neuroscience Research Group, Murdoch Children's Research Institute, Melbourne, Australia., Howell KB; Department of Neurology, Royal Children's Hospital, University of Melbourne, Melbourne, Australia.; Neuroscience Research Group, Murdoch Children's Research Institute, Melbourne, Australia., Symonds JD; School of Health and Wellbeing, University of Glasgow, Glasgow, UK.; The Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK., Brunklaus A; School of Health and Wellbeing, University of Glasgow, Glasgow, UK.; The Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK., Sadleir LG; Department of Paediatrics and Child Health, University of Otago Wellington, Wellington, New Zealand., Zuberi SM; School of Health and Wellbeing, University of Glasgow, Glasgow, UK.; The Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK., Mefford HC; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA.; Centre for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Scheffer IE; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia.; Department of Neurology, Royal Children's Hospital, University of Melbourne, Melbourne, Australia.; Neuroscience Research Group, Murdoch Children's Research Institute, Melbourne, Australia.; The Florey Institute of Neurosciences and Mental Health, Melbourne, Australia.
Publikováno v:
Annals of neurology [Ann Neurol] 2024 Nov; Vol. 96 (5), pp. 932-943. Date of Electronic Publication: 2024 Aug 02.
Autor:
Schaefer N; Health Science Center Libraries, University of Florida, Gainesville, USA., Morgan-Daniel J; Health Science Center Libraries, University of Florida, Gainesville, USA., Struckmeyer LR; Department of Occupational Therapy, University of Florida, Gainesville, USA., Myers CT; Department of Occupational Therapy, University of Florida, Gainesville, USA., King L; Department of Occupational Therapy, Governors State University, University Park, Illinois, USA., Jeghers M; Department of Occupational Therapy, University of Florida, Gainesville, USA., Medhizadah S; Department of Occupational Therapy, University of Western Ontario, London, Canada., Beneciuk J; Department of Physical Therapy, University of Florida, Gainesville, USA.
Publikováno v:
Medical reference services quarterly [Med Ref Serv Q] 2023 Apr-Jun; Vol. 42 (2), pp. 91-107.
Autor:
Schneider MK; Department of Occupational Therapy, University of Florida, Gainesville, FL, USA., Myers CT; Department of Occupational Therapy, University of Florida, Gainesville, FL, USA., Morgan-Daniel J; Health Science Center Libraries, University of Florida, Gainesville, FL, USA., Shechtman O; Department of Occupational Therapy, University of Florida, Gainesville, FL, USA.
Publikováno v:
Physical & occupational therapy in pediatrics [Phys Occup Ther Pediatr] 2023; Vol. 43 (4), pp. 430-445. Date of Electronic Publication: 2022 Nov 30.
Autor:
Kapur RP; Department of Laboratories, 7274Seattle Children's Hospital, Seattle, WA, USA.; Department of Laboratory Medicine and Pathology, 7284University of Washington, Seattle, WA, USA., Goldstein AM; Department of Pediatric Surgery, 2348Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Loeff DS; Department of Pediatric Surgery, Comer Children's Hospital, University of Chicago Medicine, Chicago, IL, USA.; Advocate Aurora Children's Hospital, Park Ridge, IL, USA., Myers CT; Department of Laboratories, 7274Seattle Children's Hospital, Seattle, WA, USA., Paschal CR; Department of Laboratories, 7274Seattle Children's Hospital, Seattle, WA, USA.; Department of Laboratory Medicine and Pathology, 7284University of Washington, Seattle, WA, USA.
Publikováno v:
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society [Pediatr Dev Pathol] 2022 Nov-Dec; Vol. 25 (6), pp. 581-597. Date of Electronic Publication: 2022 Jun 12.
Autor:
Manivannan SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston 77030, USA., Roovers J; Neurogenetics Group, VIB Centre for Molecular Neurology, Antwerp 2610, Belgium.; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp 2610, Belgium., Smal N; Applied and Translational Neurogenomics Group, VIB Centre for Molecular Neurology, VIB, Antwerp 2610, Belgium., Myers CT; Center for Pediatric Neurological Disease Research, Department of Cell and Molecular Biology St. Jude Children's Research Hospital, Memphis, TN 30105, USA., Turkdogan D; Division of Child Neurology, Department of Paediatrics, Marmara University, Faculty of Medicine, Turkey., Roelens F; Child Neurology, AZ Delta, Roeselare, Belgium., Kanca O; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston 77030, USA., Chung HL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston 77030, USA., Scholz T; Institute of Human Genetics, University Medical Centre Hamburg-Eppendorf, 20251 Hamburg, Germany., Hermann K; Department of Paediatrics, University Medical Centre Hamburg-Eppendorf, 20251 Hamburg, Germany., Bierhals T; Institute of Human Genetics, University Medical Centre Hamburg-Eppendorf, 20251 Hamburg, Germany., Caglayan HS; Department of Molecular Biology and Genetics, Bogazici University, Istanbul, Turkey., Stamberger H; Applied and Translational Neurogenomics Group, VIB Centre for Molecular Neurology, VIB, Antwerp 2610, Belgium.; Department of Neurology, University Hospital Antwerp, Antwerp 2650, Belgium., Mefford H; Center for Pediatric Neurological Disease Research, Department of Cell and Molecular Biology St. Jude Children's Research Hospital, Memphis, TN 30105, USA., de Jonghe P; Neurogenetics Group, VIB Centre for Molecular Neurology, Antwerp 2610, Belgium.; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp 2610, Belgium.; Department of Neurology, University Hospital Antwerp, Antwerp 2650, Belgium., Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston 77030, USA.; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA.; Development, Disease Models & Therapeutics Graduate Program, Baylor College of Medicine, Houston, TX 77030, USA., Weckhuysen S; Applied and Translational Neurogenomics Group, VIB Centre for Molecular Neurology, VIB, Antwerp 2610, Belgium.; Department of Neurology, University Hospital Antwerp, Antwerp 2650, Belgium.; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Antwerp 2650, Belgium.; µNEURO Research Centre of Excellence, University of Antwerp, Antwerp 2610, Belgium., Bellen HJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston 77030, USA.; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA.; Development, Disease Models & Therapeutics Graduate Program, Baylor College of Medicine, Houston, TX 77030, USA.; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA.
Publikováno v:
Brain : a journal of neurology [Brain] 2022 Jun 03; Vol. 145 (5), pp. 1684-1697.
Autor:
Zenner K; Seattle Children's Hospital, Division of Pediatric Otolaryngology, Department of Otolaryngology/Head and Neck Surgery, University of Washington, Seattle, WA 98195, USA.; Vascular Anomalies Program, Seattle Children's Hospital, Seattle, WA 98105, USA., Jensen DM; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA 98101, USA., Dmyterko V; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA 98101, USA., Shivaram GM; Department of Radiology, Division of Interventional Radiology, University of Washington School of Medicine, Seattle, WA, USA., Myers CT; Department of Laboratories, Seattle Children's Hospital, Seattle, WA 98105, USA., Paschal CR; Department of Laboratories, Seattle Children's Hospital, Seattle, WA 98105, USA., Rudzinski ER; Department of Laboratories, Seattle Children's Hospital, Seattle, WA 98105, USA., Pham MM; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA., Cheng VC; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA., Manning SC; Seattle Children's Hospital, Division of Pediatric Otolaryngology, Department of Otolaryngology/Head and Neck Surgery, University of Washington, Seattle, WA 98195, USA., Bly RA; Seattle Children's Hospital, Division of Pediatric Otolaryngology, Department of Otolaryngology/Head and Neck Surgery, University of Washington, Seattle, WA 98195, USA.; Vascular Anomalies Program, Seattle Children's Hospital, Seattle, WA 98105, USA., Ganti S; Seattle Children's Hospital, Division of Pediatric Otolaryngology, Department of Otolaryngology/Head and Neck Surgery, University of Washington, Seattle, WA 98195, USA.; Vascular Anomalies Program, Seattle Children's Hospital, Seattle, WA 98105, USA.; Center for Clinical and Translational Research, Seattle Children's Research Institute, Seattle, WA 98101, USA., Perkins JA; Seattle Children's Hospital, Division of Pediatric Otolaryngology, Department of Otolaryngology/Head and Neck Surgery, University of Washington, Seattle, WA 98195, USA.; Vascular Anomalies Program, Seattle Children's Hospital, Seattle, WA 98105, USA., Bennett JT; Vascular Anomalies Program, Seattle Children's Hospital, Seattle, WA 98105, USA.; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA 98101, USA.; Seattle Children's Hospital, Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
Publikováno v:
HGG advances [HGG Adv] 2022 Mar 15; Vol. 3 (2), pp. 100101. Date of Electronic Publication: 2022 Mar 15 (Print Publication: 2022).
Autor:
Braden RO; Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Audiology and Speech Pathology and Department of Paediatrics, University of Melbourne, Parkville, VIC, Australia., Amor DJ; Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Audiology and Speech Pathology and Department of Paediatrics, University of Melbourne, Parkville, VIC, Australia.; The Royal Children's Hospital, Parkville, VIC, Australia.; Victorian Clinical Genetics Service, Parkville, VIC, Australia., Fisher SE; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, the Netherlands., Mei C; Murdoch Children's Research Institute, Parkville, VIC, Australia.; Orygen and Centre for Youth Mental Health, University of Melbourne, Parkville, VIC, Australia., Myers CT; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, USA., Mefford H; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, USA., Gill D; TY Nelson Department of Neurology, The Children's Hospital at Westmead, Sydney, NSW, Australia., Srivastava S; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Swanson LC; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Goel H; Hunter Genetics, John Hunter Hospital, New Lambton Heights, NSW, Australia., Scheffer IE; Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Audiology and Speech Pathology and Department of Paediatrics, University of Melbourne, Parkville, VIC, Australia.; The Royal Children's Hospital, Parkville, VIC, Australia.; Austin Health, Heidelberg, Melbourne, VIC, Australia.; Florey Institute of Neuroscience and Mental Health, Parkville, VIC, Australia., Morgan AT; Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Audiology and Speech Pathology and Department of Paediatrics, University of Melbourne, Parkville, VIC, Australia.; The Royal Children's Hospital, Parkville, VIC, Australia.; Victorian Clinical Genetics Service, Parkville, VIC, Australia.
Publikováno v:
Developmental medicine and child neurology [Dev Med Child Neurol] 2021 Dec; Vol. 63 (12), pp. 1417-1426. Date of Electronic Publication: 2021 Jun 09.
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.
Autor:
Schneider AL; Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia., Myers CT; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, USA., Muir AM; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, USA., Calvert S; Department of Neurology, Queensland Children's Hospital, South Brisbane, Queensland, Australia., Basinger A; Genetics, Cook Children's, Fort Worth, TX, USA., Perry MS; Justin Neurosciences Center, Cook Children's Medical Center, Fort Worth, TX, USA., Rodan L; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Helbig KL; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Chambers C; Department of Neurosciences, University of Virginia, Charlottesville, VA, USA., Gorman KM; Department of Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Dublin, Ireland.; School of Medicine and Medical Sciences, University College Dublin, Dublin, Ireland., King MD; Department of Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Dublin, Ireland.; School of Medicine and Medical Sciences, University College Dublin, Dublin, Ireland., Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Soldatos A; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Spataro N; Genetics Laboratory, UDIAT-Centre Diagnostic, Parc Taulí University Hospital, Parc Taulí I3PT Research and Innovation Institute, University of Barcelona, Sabadell, Spain., Gabau E; Paediatric Unit, Parc Taulí University Hospital, Parc Taulí I3PT Research and Innovation Institute, University of Barcelona, Sabadell, Spain., Arellano M; Neuropediatrics Unit, Pediatric Service, MutuaTerrassa University Hospital, Terrassa, Spain., Cappuccio G; Department of Translational Medicine, Federico II University, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy., Brunetti-Pierri N; Department of Translational Medicine, Federico II University, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy., Rossignol E; Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, Quebec, Canada.; Department of Neurosciences and Department of Pediatrics, University of Montreal, Montreal, Quebec, Canada., Hamdan FF; Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, Quebec, Canada.; Department of Pediatrics, University of Montreal, Montreal, Quebec, Canada., Michaud JL; Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, Quebec, Canada.; Department of Neurosciences and Department of Pediatrics, University of Montreal, Montreal, Quebec, Canada., Balak C; Neurogenomics Division, Centre for Rare Childhood Disorders (C4RCD), Translational Genomics Research Institute, Phoenix, AZ, USA.; Department of Cellular and Molecular Medicine, School of Medicine, University of California San Diego, La Jolla, CA, USA., Mefford HC; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, USA., Scheffer IE; Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia.; Department of Paediatrics, Royal Children's Hospital, University of Melbourne, Parkville, Victoria, Australia.; Florey Institute of Neuroscience and Mental Health, Heidelberg, Victoria, Australia.; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.
Publikováno v:
Epilepsia [Epilepsia] 2021 Jan; Vol. 62 (1), pp. e13-e21. Date of Electronic Publication: 2020 Dec 06.