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Article

Novel Gain of Function Mouse Model of KCNT1-Related Epilepsy

2025-07-25

Abstract excerpt

KCNT1 -related epilepsy is an autosomal dominant neurodevelopmental disorder with at least 64 known human variants, each with unique electrophysiological and epileptic characteristics. A multi-disciplinary collaboration generated a novel mouse model (C57BL/6- Kcnt1 em1Bryd ) carrying the G269S variant, corresponding to human G288S, located within the coding region of the channel pore. Network excitability of cul...

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Literature Corpus work
ef3e3577-f8f4-5884-a0f5-2ea9d91f6d3c
DOI
10.1101/2025.07.22.666003
Open publication

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Novel Gain of Function Mouse Model of KCNT1-Related EpilepsyDOI 10.1101/2025.07.22.666003
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