Article

Epilepsy-causing <i>KCNT1</i> variants increase K <sub>Na</sub> 1.1 channel activity by disrupting the activation gate

2021-09-19

Abstract excerpt

Gain-of-function pathogenic missense KCNT1 variants are associated with several developmental and epileptic encephalopathies (DEE). With few exceptions, patients are heterozygous and there is a paucity of mechanistic information about how pathogenic variants increase K Na 1.1 channel activity and the behaviour of heterotetrameric channels comprising both wild-type (WT) and variant subunits. To better understand...

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Literature Corpus work: a00847f4-52fd-5b4e-aa87-e609e952dcb4
DOI: 10.1101/2021.09.16.460601

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