Early developmental alterations of CA1 pyramidal cells in Dravet syndrome.

Autor: Jones SP; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, University College London, London, UK., O'Neill N; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, University College London, London, UK., Carpenter JC; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, University College London, London, UK., Muggeo S; San Raffaele Scientific Institute, Via Olgettina 58, 20132 Milan, Italy., Colasante G; San Raffaele Scientific Institute, Via Olgettina 58, 20132 Milan, Italy., Kullmann DM; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, University College London, London, UK., Lignani G; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, University College London, London, UK. Electronic address: g.lignani@ucl.ac.uk.

Publikováno v: Neurobiology of disease [Neurobiol Dis] 2024 Oct 15; Vol. 201, pp. 106688. Date of Electronic Publication: 2024 Oct 03.

Navigating Dravet syndrome in Spain: A cross-sectional study of diagnosis, management, and care coordination.

Autor: Solaz S; Departamento de Salud Hospital La Fe, Centro de Salud de Silla, Valencia, Spain., Cardenal-Muñoz E; Dravet Syndrome Foundation Spain, Madrid, Spain., Muñoz A; Dravet Syndrome Foundation Spain, Madrid, Spain., Giorgi S; Dravet Syndrome Foundation Spain, Madrid, Spain., Pallardó FV; Department of Physiology, Faculty of Medicine and Dentistry, Universitat de València (UV), Valencia, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Institute of Health Carlos III, Valencia, Spain.; INCLIVA Biomedical Research Institute, Valencia, Spain., Romá-Mateo C; Department of Physiology, Faculty of Medicine and Dentistry, Universitat de València (UV), Valencia, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Institute of Health Carlos III, Valencia, Spain.; INCLIVA Biomedical Research Institute, Valencia, Spain., Aibar JÁ; Dravet Syndrome Foundation Spain, Madrid, Spain.

Publikováno v: Epilepsia open [Epilepsia Open] 2024 Oct; Vol. 9 (5), pp. 1806-1815. Date of Electronic Publication: 2024 Jul 10.

The emotional burden of caring for patients with Lennox-Gastaut syndrome, Dravet syndrome, and tuberous sclerosis complex-associated epilepsy: A qualitative study in Japan.

Autor: LoPresti M; Value & Access Department, INTAGE Healthcare Inc., Ochanomizu Sola City 13F Kanda Surugadai 4-6 Chiyoda-ku, Tokyo 101-0062, Japan. Electronic address: m.lopresti@intage.com., Igarashi A; Department of Public Health, School of Medicine, Yokohama City University, 22-2 Seto, Kanazawa-ku, Yokohama, Kanagawa 236-0027, Japan; Department of Health Economics and Outcomes Research, Graduate School of Pharmaceutical Sciences, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-0033, Japan. Electronic address: atarui1@mac.com., Sonohara Y; Value & Access Department, INTAGE Healthcare Inc., Ochanomizu Sola City 13F Kanda Surugadai 4-6 Chiyoda-ku, Tokyo 101-0062, Japan. Electronic address: sonohara.44124@intage.com., Bowditch S; Department of Patient Access and Value, Jazz Pharmaceuticals UK Ltd., Spires House, 5700 John Smith Drive, Oxford Business Park, South, Oxford OX4 2RW, UK. Electronic address: Sally.Bowditch@jazzpharma.com.

Publikováno v: Epilepsy & behavior : E&B [Epilepsy Behav] 2024 Sep; Vol. 158, pp. 109932. Date of Electronic Publication: 2024 Jul 18.

POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxia.

Autor: Symonds JD; Paediatric Neurosciences Research Group, School of Health and Wellbeing, University of Glasgow, Glasgow, UK.; Royal Hospital for Children, Glasgow, UK., Park KL; Children's Hospital Colorado, Anschutz Medical Campus, University of Colorado, Aurora, Colorado, USA., Mignot C; Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière-Hôpital Trousseau, Sorbonne Université, Paris, France., Macleod S; Royal Hospital for Children, Glasgow, UK., Armstrong M; UCB Pharma, Braine l'Alleud, Belgium., Ashrafian H; Division of Cardiovascular Medicine, John Radcliffe Hospital, Oxford, UK.; Department of Experimental Therapeutics, Radcliffe Department of Medicine, John Radcliffe Hospital, Oxford, UK., Bernard G; Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics, McGill University, Montreal, Quebec, Canada.; Department Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, Quebec, Canada.; Child Health and Human Development Program, Research, Institute of the McGill University Health Centre, Montreal, Quebec, Canada., Brown K; Department of Pediatrics, Section of Genetics and Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, Colorado, USA., Brunklaus A; Paediatric Neurosciences Research Group, School of Health and Wellbeing, University of Glasgow, Glasgow, UK.; Royal Hospital for Children, Glasgow, UK., Callaghan M; Department of Paediatrics, University Hospital Wishaw, Wishaw, UK., Classen G; Children's Center Bethel, University Bielefeld, Bielefeld, Germany., Cohen JS; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Cutcutache I; UCB Pharma, Slough, UK., de Sainte Agathe JM; Department of Genetics, Pitié-Salpêtrière Hospital, APHP. Sorbonne Université, Paris, France., Dyment D; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada., Elliot KS; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Isapof A; Service de Neuropédiatrie, Hôpital Trousseau, Sorbonne Université, Paris, France., Joss S; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospitals, Glasgow, UK., Keren B; Department of Genetics, Pitié-Salpêtrière Hospital, APHP. Sorbonne Université, Paris, France., Marble M; Division of Pediatric Genetics, Department of Pediatrics, University of New Mexico Health Sciences Center, Albuquerque, New Mexico, USA., McTague A; Developmental Neurosciences. Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, UK., Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada., Page M; UCB Pharma, Slough, UK., Planes M; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France.; Université Brest, Brest, France., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Redon S; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France.; Université Brest, Brest, France., Reese J; Presbyterian Healthcare System, Albuquerque, New Mexico, USA., Saenz M; Department of Pediatrics, Section of Genetics and Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, Colorado, USA., Smith-Hicks C; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Stobo D; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospitals, Glasgow, UK., Stockhaus C; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Vuillaume ML; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France.; UMR 1253, iBrain, University of Tours, Tours, France.; Genetics Department, University of Tours, Tours, France., Wolf NI; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma's Children's Hospital, Amsterdam UMC, Vrije Universiteit, Amsterdam, The Netherlands., Wakeling EL; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Yoon G; Departments of Paediatrics and Molecular Genetics, Hospital for Sick Children, Toronto, Ontario, Canada., Knight JC; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Zuberi SM; Paediatric Neurosciences Research Group, School of Health and Wellbeing, University of Glasgow, Glasgow, UK.; Royal Hospital for Children, Glasgow, UK.

Publikováno v: Epilepsia [Epilepsia] 2024 Nov; Vol. 65 (11), pp. 3303-3323. Date of Electronic Publication: 2024 Sep 30.

Autism and attention-deficit/hyperactivity disorder in children with Dravet syndrome: A population-based study.

Autor: Reilly C; Department of Paediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.; Queen Silvia Children's Hospital, Sahlgrenska University Hospital, Gothenburg, Sweden., Bjurulf B; Department of Paediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.; Queen Silvia Children's Hospital, Sahlgrenska University Hospital, Gothenburg, Sweden., Hallböök T; Department of Paediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.; Queen Silvia Children's Hospital, Sahlgrenska University Hospital, Gothenburg, Sweden.

Publikováno v: Developmental medicine and child neurology [Dev Med Child Neurol] 2024 Nov; Vol. 66 (11), pp. 1457-1465. Date of Electronic Publication: 2024 Apr 26.