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Non-syndromic autism <i>SCN2A</i> variants selectively exert dominant-negative effects on Na <sub>v</sub> 1.2 channels

2026-02-25

Abstract excerpt

<h4>ABSTRACT</h4> The voltage-gated Na + channel Na v 1.2 has a key role for the initiation and propagation of action potentials and therefore in neuronal excitability in brain development and function. Genetic variants of the encoding gene SCN2A cause various neurodevelopmental phenotypes with infantile-childhood onset. Here, we investigated the functional impact on hNa v 1.2 function of 15 variants associat...

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Literature Corpus work
420c1962-a60f-5b45-8c14-7caf920600a6
DOI
10.64898/2026.02.24.707547
Open publication

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Non-syndromic autism <i>SCN2A</i> variants selectively exert dominant-negative effects on Na <sub>v</sub> 1.2 channelsDOI 10.64898/2026.02.24.707547
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