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Dravet variant <i> SCN1A <sup>A1783V</sup> </i> impairs interneuron firing predominantly by altered channel activation

2021-04-23

Abstract excerpt

Dravet syndrome (DS) is a developmental epileptic encephalopathy mainly caused by functional Na V 1.1 haploinsufficiency in interneurons (IN). Recently, a new conditional mouse model expressing the recurrent human p.A1783V missense variant has become available. Here we provide an electrophysiological characterization of this variant in tsA201 cells, revealing both altered voltage-dependence of activation and slow...

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Literature Corpus work
dc890122-4d04-51fd-aade-8f3a6a8580b2
DOI
10.1101/2021.04.23.440874
Open publication

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Dravet variant <i> SCN1A <sup>A1783V</sup> </i> impairs interneuron firing predominantly by altered channel activationDOI 10.1101/2021.04.23.440874
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