Familial mesial temporal lobe epilepsy and the borderland of déjà vu

Autor: Anne M. McIntosh, IE Scheffer, K. Meng Tan, Douglas E. Crompton, Frank J.E. Vajda, Samuel F. Berkovic, Mark R Newton, Susannah T. Bellows, Patrick Kwan, Tomas Kalincik, Terence J. O'Brien, Piero Perucca

Publikováno v: Annals of Neurology. 82:166-176

Objective: The cause of mesial temporal lobe epilepsy (MTLE) is often unknown. We ascertained to what extent newly-diagnosed non-lesional MTLE actually represents familial MTLE (FMTLE). Methods: We identified all consecutive patients presenting to th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::caa377c76ad823170f20d547a82791d0
https://doi.org/10.1002/ana.24984

CHD2 variants are a risk factor for photosensitivity in epilepsy

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

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

Eating habits and behaviors in children with Dravet syndrome: A case-control study.

Autor: Laliberté A; Faculty of Medicine and Health Sciences, McGill University, Montreal, Quebec, Canada., Siafa L; Faculty of Medicine and Health Sciences, McGill University, Montreal, Quebec, Canada., Soufi A; Faculty of Medicine and Health Sciences, McGill University, Montreal, Quebec, Canada., Dassi C; Research Institute of the McGill University Medical Centre, Montreal, Quebec, Canada., Russ-Hall SJ; Epilepsy Research Centre, Department of Medicine (Austin Health), The University of Melbourne, Heidelberg, Victoria, Australia., Scheffer IE; Epilepsy Research Centre, Department of Medicine (Austin Health), The University of Melbourne, Heidelberg, Victoria, Australia.; Bladin-Berkovic Comprehensive Epilepsy Program, Department of Neurology, Austin Health, Heidelberg, Victoria, Australia.; Florey Institute of Neuroscience and Mental Health, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Victoria, Australia., Myers KA; Research Institute of the McGill University Medical Centre, Montreal, Quebec, Canada.; Division of Neurology, Department of Pediatrics, Montreal Children's Hospital, McGill University Health Centre, Montreal, Quebec, Canada.; Department of Neurology and Neurosurgery, McGill University Health Centre, Montreal, Quebec, Canada.

Publikováno v: Epilepsia [Epilepsia] 2024 Nov 06. Date of Electronic Publication: 2024 Nov 06.

Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS).

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.

Practical considerations for the use of fenfluramine to manage patients with Dravet syndrome or Lennox-Gastaut syndrome in clinical practice.

Autor: Wirrell EC; Divisions of Child and Adolescent Neurology and Epilepsy, Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA., Lagae L; Member of the European Reference Network EpiCARE, Department of Pediatric Neurology, University of Leuven, Leuven, Belgium., Scheffer IE; Austin Hospital and Royal Children''s Hospital, Florey and Murdoch Children's Research Institutes, University of Melbourne, Melbourne, Victoria, Australia., Cross JH; Developmental Neurosciences Research & Teaching Department, UCL NIHR BRC Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital, London, UK., Specchio N; Neurology, Epilepsy and Movement Disorders Unit, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE, Rome, Italy., Strzelczyk A; Goethe-University Frankfurt, Epilepsy Center Frankfurt Rhine-Main and Department of Neurology, University Hospital Frankfurt, Frankfurt am Main, Germany.

Publikováno v: Epilepsia open [Epilepsia Open] 2024 Oct; Vol. 9 (5), pp. 1643-1657. Date of Electronic Publication: 2024 Jul 04.