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Targeted blockade of aberrant sodium current in a stem cell-derived neuron model of SCN3A encephalopathy.

Autor: Qu G; Division of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA., Merchant JP; Department of Neuroscience, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, 19104, USA., Clatot J; Division of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.; The Epilepsy NeuroGenetics Initiative, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA., DeFlitch LM; Division of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA., Frederick DJ; Department of Child and Adolescent Psychiatry, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA., Tang S; Department of Neuroscience, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, 19104, USA., Salvatore M; Department of Child and Adolescent Psychiatry, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA., Zhang X; Division of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA., Li J; Department of Child and Adolescent Psychiatry, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA., Anderson SA; The Epilepsy NeuroGenetics Initiative, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.; Department of Child and Adolescent Psychiatry, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.; Department of Psychiatry, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, 19104, USA., Goldberg EM; Division of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.; Department of Neuroscience, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, 19104, USA.; The Epilepsy NeuroGenetics Initiative, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.; Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, 19104, USA.

Publikováno v: Brain : a journal of neurology [Brain] 2024 Apr 04; Vol. 147 (4), pp. 1247-1263.