P47 – 1794 Early predictors of long-term cognitive, emotional and behavioural outcome in children with ESES: a retrospective study.

Autor: Weijenberg, A, Vlaskamp, DRM, Elting, JW, Veenstra, WS, Gutter, T, Geerts, Y, Brouwer, OF, Callenbach, PMC

Publikováno v: European Journal of Paediatric Neurology; Sep2013 Supplement, Vol. 17, pS66-S67, 0p

Functional correlates of clinical phenotype and severity in recurrent SCN2A variants.

Autor: Berecki G; Ion Channels and Human Diseases Group, The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, VIC, 3052, Australia. geza.berecki@florey.edu.au., Howell KB; Ion Channels and Human Diseases Group, The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, VIC, 3052, Australia.; Department of Neurology, Royal Children's Hospital, Parkville, VIC, 3052, Australia.; Department of Paediatrics, University of Melbourne, Parkville, VIC, 3052, Australia.; Murdoch Children's Research Institute, Parkville, VIC, 3052, Australia., Heighway J; Ion Channels and Human Diseases Group, The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, VIC, 3052, Australia., Olivier N; Praxis Precision Medicines, Inc, Cambridge, MA, 02142, USA., Rodda J; Murdoch Children's Research Institute, Parkville, VIC, 3052, Australia., Overmars I; Murdoch Children's Research Institute, Parkville, VIC, 3052, Australia., Vlaskamp DRM; Departments of Neurology and Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Ware TL; Department of Paediatrics, Royal Hobart Hospital, Hobart, TAS, 7000, Australia., Ardern-Holmes S; Department of Neurology, Children's Hospital Westmead, Sydney, NSW, Australia., Lesca G; Service de Génétique, Hospices Civils de Lyon, 69002, Lyon, France., Alber M; Department of Pediatric Neurology and Developmental Medicine, University Children's Hospital, Tübingen, Germany., Veggiotti P; Pediatric Neurology Unit, V. Buzzi Children's Hospital, Milan, Italy., Scheffer IE; Department of Neurology, Royal Children's Hospital, Parkville, VIC, 3052, Australia.; Department of Paediatrics, University of Melbourne, Parkville, VIC, 3052, Australia.; Murdoch Children's Research Institute, Parkville, VIC, 3052, Australia.; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, 3084, Australia., Berkovic SF; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, 3084, Australia., Wolff M; Pediatric Neurology, Vivantes Hospital Neukölln, Berlin, Germany., Petrou S; Ion Channels and Human Diseases Group, The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, VIC, 3052, Australia. steven.petrou@florey.edu.au.; Praxis Precision Medicines, Inc, Cambridge, MA, 02142, USA. steven.petrou@florey.edu.au.; Department of the Florey Institute, University of Melbourne, Parkville, VIC, 3050, Australia. steven.petrou@florey.edu.au.

Publikováno v: Communications biology [Commun Biol] 2022 May 30; Vol. 5 (1), pp. 515. Date of Electronic Publication: 2022 May 30.

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.

PRRT2-related phenotypes in patients with a 16p11.2 deletion.

Autor: Vlaskamp DRM; 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., Callenbach PMC; University of Groningen, University Medical Center Groningen, Department of Neurology, Groningen, The Netherlands., Rump P; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands., Giannini LAA; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands., Brilstra EH; University Medical Center Utrecht, Department of Genetics, Utrecht, The Netherlands., Dijkhuizen T; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands., Vos YJ; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands., van der Kevie-Kersemaekers AF; Academic Medical Center, Department of Genetics, Amsterdam, The Netherlands., Knijnenburg J; Erasmus Medical Center, Department of Genetics, Rotterdam, The Netherlands., de Leeuw N; Radboud University Medical Center, Department of Genetics, Nijmegen, The Netherlands., van Minkelen R; Erasmus Medical Center, Department of Genetics, Rotterdam, The Netherlands., Ruivenkamp CAL; Leiden University Medical Center, Department of Genetics, Leiden, The Netherlands., Stegmann APA; Maastricht University Medical Center, Department of Genetics, Maastricht, The Netherlands., Brouwer OF; University of Groningen, University Medical Center Groningen, Department of Neurology, Groningen, The Netherlands., van Ravenswaaij-Arts CMA; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands. Electronic address: c.m.a.van.ravenswaaij@umcg.nl.

Publikováno v: European journal of medical genetics [Eur J Med Genet] 2019 Apr; Vol. 62 (4), pp. 265-269. Date of Electronic Publication: 2018 Aug 17.

Schizophrenia is a later-onset feature of PCDH19 Girls Clustering Epilepsy.

Autor: Vlaskamp DRM; Department of Medicine, Epilepsy Research Centre, The University of Melbourne, Austin Health, Melbourne, Victoria, Australia.; Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Bassett AS; Clinical Genetics Research Program, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.; Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada.; Dalglish Family 22q Clinic for Adults with 22q11.2 Deletion Syndrome, Toronto General Research Institute, University Health Network, Toronto, Ontario, Canada., Sullivan JE; Pediatric Epilepsy Center, Benioff Children's Hospital, University of California San Francisco, San Francisco, California., Robblee J; Division of Neurology, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada., Sadleir LG; Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand., Scheffer IE; Department of Medicine, Epilepsy Research Centre, The University of Melbourne, Austin Health, Melbourne, Victoria, Australia.; Department of Paediatrics, Royal Children's Hospital, The University of Melbourne, Victoria, Australia.; The Florey Institute of Neurosciences and Mental Health, Melbourne, Victoria, Australia., Andrade DM; Division of Neurology, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada.; Epilepsy Genetics Research Program, Krembil Neuroscience Centre, University of Toronto, Toronto, Ontario, Canada.

Publikováno v: Epilepsia [Epilepsia] 2019 Mar; Vol. 60 (3), pp. 429-440. Date of Electronic Publication: 2019 Mar 03.