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Article

Heterozygous expression of a <i>Kcnt1</i> gain-of-function variant has differential effects on SST- and PV-expressing cortical GABAergic neurons

2023-10-11

Abstract excerpt

<h4>ABSTRACT</h4> More than twenty recurrent missense gain-of-function (GOF) mutations have been identified in the sodium-activated potassium (K Na ) channel gene KCNT1 in patients with severe developmental and epileptic encephalopathies (DEEs), most of which are resistant to current therapies. Defining the neuron types most vulnerable to KCNT1 GOF will advance our understanding of disease mechanisms and provid...

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Literature Corpus work
6ee604b2-6557-511f-9176-fbaec4e40a47
DOI
10.1101/2023.10.11.561953
Open publication

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Heterozygous expression of a <i>Kcnt1</i> gain-of-function variant has differential effects on SST- and PV-expressing cortical GABAergic neuronsDOI 10.1101/2023.10.11.561953
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