Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement.

Autor: LaFlamme CW; Center for Pediatric Neurological Disease Research, Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.; Graduate School of Biomedical Sciences, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA., Rastin C; Department of Pathology & Laboratory Medicine, Western University, London, ON, N5A 3K7, Canada.; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, N6A 5W9, Canada., Sengupta S; Center for Pediatric Neurological Disease Research, Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA., Pennington HE; Center for Pediatric Neurological Disease Research, Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.; Department of Mathematics & Statistics, Rhodes College, Memphis, TN, 38112, USA., Russ-Hall SJ; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, 3084, Australia., Schneider AL; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, 3084, Australia., Bonkowski ES; Center for Pediatric Neurological Disease Research, Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA., Almanza Fuerte EP; Center for Pediatric Neurological Disease Research, Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA., Allan TJ; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, 3084, Australia., Zalusky MP; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, 98195, USA., Goffena J; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, 98195, USA., Gibson SB; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, 98195, USA.; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, 98195, USA., Nyaga DM; Department of Paediatrics and Child Health, University of Otago, Wellington, 6242, New Zealand., Lieffering N; Department of Paediatrics and Child Health, University of Otago, Wellington, 6242, New Zealand., Hebbar M; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, 98195, USA., Walker EV; Hartwell Center for Bioinformatics and Biotechnology, St. Jude Children's Research Hospital Memphis, Memphis, TN, 38105, USA., Darnell D; Hartwell Center for Bioinformatics and Biotechnology, St. Jude Children's Research Hospital Memphis, Memphis, TN, 38105, USA., Olsen SR; Hartwell Center for Bioinformatics and Biotechnology, St. Jude Children's Research Hospital Memphis, Memphis, TN, 38105, USA., Kolekar P; Department of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA., Djekidel MN; Center for Applied Bioinformatics, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA., Rosikiewicz W; Center for Applied Bioinformatics, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA., McConkey H; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, N6A 5W9, Canada., Kerkhof J; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, N6A 5W9, Canada., Levy MA; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, N6A 5W9, Canada., Relator R; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, N6A 5W9, Canada., Lev D; Institute of Medical Genetics, Wolfson Medical Center, Holon, 58100, Israel., Lerman-Sagie T; Fetal Neurology Clinic, Pediatric Neurology Unit, Wolfson Medical Center, Holon, 58100, Israel.; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel., Park KL; Departments of Pediatrics and Neurology, University of Colorado School of Medicine, Aurora, CO, 80045, USA., Alders M; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, Meibergdreef 9, Amsterdam, Netherlands., Cappuccio G; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.; Department of Translational Medicine, Federico II University of Naples, Naples, Italy., Chatron N; Department of Medical Genetics, Member of the ERN EpiCARE, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon, France.; Pathophysiology and Genetics of Neuron and Muscle (PNMG), UCBL, CNRS UMR5261 - INSERM, U1315, Lyon, France., Demain L; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Genevieve D; Montpellier University, Inserm Unit 1183, Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndrome, Clinical Genetic Department, CHU Montpellier, Montpellier, France., Lesca G; Department of Medical Genetics, Member of the ERN EpiCARE, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon, France.; Pathophysiology and Genetics of Neuron and Muscle (PNMG), UCBL, CNRS UMR5261 - INSERM, U1315, Lyon, France., Roscioli T; Neuroscience Research Australia (NeuRA), Sydney, NSW, Australia.; Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia.; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia., Sanlaville D; Department of Medical Genetics, Member of the ERN EpiCARE, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon, France.; Pathophysiology and Genetics of Neuron and Muscle (PNMG), UCBL, CNRS UMR5261 - INSERM, U1315, Lyon, France., Tedder ML; Greenwood Genetic Center, Greenwood, SC, 29646, USA., Gupta S; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, NSW, Australia., Jones EA; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Weisz-Hubshman M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Genetic Department, Houston, TX, 77030, USA., Ketkar S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Dai H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Worley KC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Chao HT; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX, 77030, USA.; Cain Pediatric Neurology Research Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA.; Department of Neuroscience, Baylor College of Medicine, Houston, TX, 77030, USA.; McNair Medical Institute, The Robert and Janice McNair Foundation, Houston, TX, 77030, USA., Neale G; Hartwell Center for Bioinformatics and Biotechnology, St. Jude Children's Research Hospital Memphis, Memphis, TN, 38105, USA., Carvill GL; Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Wang Z; Department of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.; Department of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA., Berkovic SF; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, 3084, Australia., Sadleir LG; Department of Paediatrics and Child Health, University of Otago, Wellington, 6242, New Zealand., Miller DE; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, 98195, USA.; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, 98195, USA.; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, 98195, USA., Scheffer IE; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, 3084, Australia.; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC, Australia.; Florey Institute and Murdoch Children's Research Institute, Melbourne, VIC, Australia., Sadikovic B; Department of Pathology & Laboratory Medicine, Western University, London, ON, N5A 3K7, Canada. Bekim.Sadikovic@lhsc.on.ca.; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, N6A 5W9, Canada. Bekim.Sadikovic@lhsc.on.ca., Mefford HC; Center for Pediatric Neurological Disease Research, Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA. Heather.Mefford@stjude.org.

Publikováno v: Nature communications [Nat Commun] 2024 Aug 06; Vol. 15 (1), pp. 6524. Date of Electronic Publication: 2024 Aug 06.

Cation leak: a common functional defect causing HCN1 developmental and epileptic encephalopathy.

Autor: McKenzie CE; Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, VIC 3052, Australia., Forster IC; Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, VIC 3052, Australia., Soh MS; Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, VIC 3052, Australia., Phillips AM; Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, VIC 3052, Australia.; School of Biosciences, University of Melbourne, Parkville, VIC 3052, Australia., Bleakley LE; Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, VIC 3052, Australia., Russ-Hall SJ; Department of Medicine, Epilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia., Myers KA; Department of Pediatrics, Faculty of Medicine, McGill University, Montreal, Montreal, Quebec H4A 3J1, Canada., Scheffer IE; Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, VIC 3052, Australia.; Department of Medicine, Epilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia.; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC 3052, Australia., Reid CA; Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, VIC 3052, Australia.; Department of Medicine, Epilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia.

Publikováno v: Brain communications [Brain Commun] 2023 May 17; Vol. 5 (3), pp. fcad156. Date of Electronic Publication: 2023 May 17 (Print Publication: 2023).

The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.

Autor: Brunklaus A; Institute of Health and Wellbeing, University of Glasgow, Glasgow, UK.; The Paediatric Neurosciences Research Group, Royal Hospital for Children, Member of the ERN EpiCARE, Glasgow, UK., Brünger T; Cologne Center for Genomics, University of Cologne, Cologne, Germany., Feng T; Institute of Health and Wellbeing, University of Glasgow, Glasgow, UK.; The Paediatric Neurosciences Research Group, Royal Hospital for Children, Member of the ERN EpiCARE, Glasgow, UK., Fons C; Pediatric Neurology Department, CIBERER-ISCIII, Sant Joan de Déu Universitary Hospital, Institut de Recerca Sant Joan de Déu, Member of the ERN EpiCARE, Barcelona, Spain., Lehikoinen A; Pediatric Neurology Department, Kuopio University Hospital, Member of the ERN EpiCARE, Kuopio, Finland., Panagiotakaki E; Department of Paediatric Clinical Epileptology, sleep disorders and functional neurology, Member of the ERN EpiCARE, University Hospitals of Lyon (HCL) and Inserm U1028/CNRS UMR5292, Lyon, France., Vintan MA; 'Iuliu Hatieganu' University of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Neurology and Pediatric Neurology, Victor Babes, 43, 400012 Cluj-Napoca, Romania., Symonds J; Institute of Health and Wellbeing, University of Glasgow, Glasgow, UK.; The Paediatric Neurosciences Research Group, Royal Hospital for Children, Member of the ERN EpiCARE, Glasgow, UK., Andrew J; The Paediatric Neurosciences Research Group, Royal Hospital for Children, Member of the ERN EpiCARE, Glasgow, UK., Arzimanoglou A; Pediatric Neurology Department, CIBERER-ISCIII, Sant Joan de Déu Universitary Hospital, Institut de Recerca Sant Joan de Déu, Member of the ERN EpiCARE, Barcelona, Spain.; Department of Paediatric Clinical Epileptology, sleep disorders and functional neurology, Member of the ERN EpiCARE, University Hospitals of Lyon (HCL) and Inserm U1028/CNRS UMR5292, Lyon, France., Delima S; Indiana University School of Medicine, IU Health Riley Hospital for Children, Department of Neurology, Division of Pediatric Neurology, Indianapolis, IN, USA., Gallois J; Louisiana State University Health Sciences Center School of Medicine, New Orleans, LA, USA., Hanrahan D; Department of Paediatric Neurology, Royal Belfast Hospital for Sick Children, Belfast, UK., Lesca G; Department of Medical Genetics, Lyon University Hospital, Member of the ERN EpiCARE, Université Claude Bernard Lyon 1, Lyon, France., MacLeod S; The Paediatric Neurosciences Research Group, Royal Hospital for Children, Member of the ERN EpiCARE, Glasgow, UK., Marjanovic D; The Danish Epilepsy Centre, Member of the ERN EpiCARE, Dianalund, Denmark., McTague A; Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital for Children, Member of the ERN EpiCARE, London, UK., Nuñez-Enamorado N; Pediatric Neurology Department, 12 Octubre Universitary Hospital, Madrid, Spain., Perez-Palma E; Universidad del Desarrollo, Centro de Genética y Genómica, Facultad de Medicina Clínica Alemana, Santiago, Chile., Scott Perry M; Jane and John Justin Neurosciences Center, Cook Children's Medical Center, Ft Worth, TX, USA., Pysden K; Paediatric Neurology Department, Leeds Teaching Hospitals, Leeds General Infirmary, Leeds, UK., Russ-Hall SJ; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia., Scheffer IE; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia.; Florey Institute of Neuroscience and Mental Health, Melbourne, Australia.; Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Australia., Sully K; Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Syrbe S; Division of Pediatric Epileptology, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Vaher U; Children's Clinic of Tartu University Hospital, Faculty of Medicine of Tartu University, Member of the ERN EpiCARE, Tartu, Estonia., Velayutham M; Birmingham Children's Hospital, Birmingham, UK., Vogt J; West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital, Birmingham, UK., Weiss S; Division of Neurology, SickKids, University of Toronto, Toronto, Canada., Wirrell E; Divisions of Epilepsy and Child and Adolescent Neurology, Department of Neurology, Mayo Clinic, Rochester, MN, USA., Zuberi SM; Institute of Health and Wellbeing, University of Glasgow, Glasgow, UK.; The Paediatric Neurosciences Research Group, Royal Hospital for Children, Member of the ERN EpiCARE, Glasgow, UK., Lal D; Cologne Center for Genomics, University of Cologne, Cologne, Germany.; Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, USA.; Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH, USA.; Stanley Center for Psychiatric Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Møller RS; The Danish Epilepsy Centre, Member of the ERN EpiCARE, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark., Mantegazza M; Université Côte d'Azur, 06560 Valbonne-Sophia Antipolis, France.; CNRS UMR7275, Institute of Molecular and Cellular Pharmacology (IPMC), 06560 Valbonne-Sophia Antipolis, France.; Inserm, 06560 Valbonne-Sophia Antipolis, France., Cestèle S; Université Côte d'Azur, 06560 Valbonne-Sophia Antipolis, France.; CNRS UMR7275, Institute of Molecular and Cellular Pharmacology (IPMC), 06560 Valbonne-Sophia Antipolis, France.

Publikováno v: Brain : a journal of neurology [Brain] 2022 Nov 21; Vol. 145 (11), pp. 3816-3831.