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Distinctive <i>in vitro</i> phenotypes in iPSC-derived neurons from patients with gain- and loss-of-function <i>SCN2A</i> developmental and epileptic encephalopathy

2023-02-15

Abstract excerpt

SCN2A encodes Na V 1.2, an excitatory neuron voltage-gated sodium channel and major monogenic cause of neurodevelopmental disorders, including developmental and epileptic encephalopathies (DEE) and autism. Clinical presentation and pharmocosensitivity vary with nature of SCN2A variant dysfunction with gain-of-function (GoF) cases presenting with pre- or peri-natal seizures and loss-of-function (LoF) patients typ...

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Literature Corpus work
f6398bf2-b852-5f8c-bc09-45eb266844ff
DOI
10.1101/2023.02.14.528217
Open publication

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Distinctive <i>in vitro</i> phenotypes in iPSC-derived neurons from patients with gain- and loss-of-function <i>SCN2A</i> developmental and epileptic encephalopathyDOI 10.1101/2023.02.14.528217
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