Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: two new cases and review of the literature |
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| Affiliation: | 1. Epilepsy Clinic, Hospital Sírio-Libanês, São Paulo, Brazil;2. Radiology Department, Hospital Sírio-Libanês, São Paulo, Brazil;3. Mendelics Genomic Analysis, São Paulo, Brazil;4. Department of Neurology, University of São Paulo School of Medicine, Brazil;1. Adelaide Medical School, Robinson Research Institute, The University of Adelaide, Adelaide 5005, Australia;2. Department of Paediatrics, The University of Melbourne Royal Children''s Hospital, Parkville 3010, Australia;3. Neuroscience of Speech Group, Clinical Sciences Theme, Murdoch Children''s Research Institute, Parkville 3052, Australia;4. The Walter and Eliza Hall Institute of Medical Research, Parkville, 3052, Australia;5. School of Earth Sciences, The University of Melbourne, Parkville 3010, Australia;6. Department of Neurology, Murdoch Children’s Research Institute, Parkville 3052, Australia;7. Department of Sleep Medicine, Royal Infirmary of Edinburgh, Edinburgh EH16 4SA, United Kingdom;8. School of Biological Sciences, The University of Adelaide, Adelaide 5005, Australia;9. Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg 3084, Australia;10. Florey Institute of Neuroscience and Mental Health, Melbourne 3084, Australia;11. Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Western Australia, Australia;12. South Australian Health and Medical Research Institute, Adelaide, SA 5000, Australia;1. Department of Pediatrics, Gifu Prefectural Tajimi Hospital, Tajimi, Japan;2. Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan;3. Department of Neurology, Aichi Children’s Health and Medical Center, Obu, Japan;4. Department of Cardiology, Aichi Children’s Health and Medical Center, Obu, Japan;5. Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan;1. Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel;2. Pediatric Movement Disorders Service, Wolfson Medical Center, Holon, Israel;3. School of Psychological Sciences, Tel-Aviv University, Israel;4. Department of Health Systems Management, Ariel University, Ariel, Israel;5. Molecular Genetics Laboratory, Wolfson Medical Center, Holon, Israel;6. Departement de Neuropediatrie, CHU Gui de Chauliac, Institut des Neurosciences de Montpellier, Montpellier, France;7. Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, IRCCS Bambino Gesu’ Children''s Hospital, Rome, Italy;8. Vall d''Hebron Research Institute, Pediatric Neurology Research Group, Autonomous University of Barcelona, Barcelona, Spain;9. Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel;10. Pediatric Neurology Unit, Edmond and Lily Safra Children''s Hospital, Chaim Sheba Medical Center, Ramat Gan, Israel;11. Department of Pediatrics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands;12. The Institute for Rare Diseases, Edmond and Lily Safra Children''s Hospital; Talpiot Medical Leadership Program, Sheba Medical Center, Ramat Gan, Israel;13. University Hospital Reina Sofía, Pediatric Neurology Unit, IMIBIC and CIBERER, Córdoba, Spain;14. Service de Médecine Psychologique Enfants et Adolescents, CHU Saint Eloi, Montpellier, France;15. AP-HP, GH Saint Louis-Lariboisière-Fernand Widal, Service de Génétique Moléculaire Neurovasculaire, Paris, France;p. Movement Disorders Institute and Department of Neurology, Chaim Sheba Medical Center, Ramat Gan, Israel;q. Pediatric Neurology Unit TASMC, Tel-Aviv University, Israel;r. Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel;s. Pediatric Epilepsy & Neurology Service, Barzilay Medical Center, Ashkelon, Israel;1. Department of Pharmaceutical Toxicology, School of Pharmacy, China Medical University, Shenyang, 110122, China;2. Department of Neurosurgery, The First Hospital of China Medical University, Shenyang, 110001, China;3. Department of Pediatrics, The Third Xiangya Hospital, Central South University, Changsha, 410006, China;4. Department of Neurology, The First Hospital of China Medical University, Shenyang, 110001, China;5. Department of Ophthalmology, Stanford University School of Medicine, Palo Alto, CA 94305, USA;6. Department of Clinical Pharmacology, Xiangya Hospital, Central South University, Changsha, 410008, China;7. Institute of Clinical Pharmacology, Hunan Key Laboratory of Pharmacogenetics, Central South University, Changsha, 410078, China;8. Department of Orthopedics, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA 02115, USA;9. Department of Cardiovascular, Surgery of Guangdong Cardiovascular Institute, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Laboratory of South China Structural Heart Disease, Guangzhou, 510080, China;1. Department of Human Genetics, Emory University, Atlanta, GA 30322, United States;2. EGL Genetic Diagnostics, Decatur, GA 30033, United States;3. The Herman and Walter Samuelson Children''s Hospital at Sinai, Division of Pediatric Neurology, Baltimore, MD 21209, United States;4. Division of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO 80045, United States |
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| Abstract: | ![]()
SCN3A was recently recognized as a gene associated with neurodevelopmental disorder and epilepsy. We present two additional patients with a novel de novo SCN3A pathogenic variant, and a review of all published cases of de novo variants. In one of our patients brain magnetic resonance imaging (MRI) disclosed a severe polymicrogyria and in the other it was normal. The clinical phenotype was characterized by a severe developmental delay and refractory epilepsy in the patient with polymicrogyria and intellectual disability with autistic features and pharmacoresponsive epilepsy in the subject with normal MRI. Polymicrogyria, a disorder of progenitor cells proliferation and migration, is an unanticipated finding for an ion channel dysfunction. |
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| Keywords: | Epilepsy Epileptic encephalopathy Polymicrogyria |
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