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Electrophysiological signatures of a developmental delay in a stem cell model of <i>KCNQ2</i> developmental and epileptic encephalopathy

2024-03-13

Abstract excerpt

<h4>Background</h4> KCNQ2 , encoding K V 7.2 ion channels, has emerged as one of the prominent genes causing early onset seizures with developmental delay ( KCNQ2 developmental and epileptic encephalopathy; KCNQ2 -DEE). KCNQ2 de novo loss-of-function (LOF) and associated neuronal hyperexcitability have been accepted as mechanisms contributing to seizures. To investigate the developmental impact of KCNQ2 LOF,...

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Literature Corpus work
496b9ffc-9fa6-54b4-9928-ede06d4a469b
DOI
10.1101/2024.03.13.584717
Open publication

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Electrophysiological signatures of a developmental delay in a stem cell model of <i>KCNQ2</i> developmental and epileptic encephalopathyDOI 10.1101/2024.03.13.584717
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