Article
Impaired motor skill learning and altered seizure susceptibility in mice with loss or gain of function of the Kcnt1 gene encoding Slack (KNa1.1) Na+-activated K+ channels.
Scientific reports - 21 Feb 2020
Quraishi Imran H, Mercier Michael R, McClure Heather, Couture Rachael L, Schwartz Michael L, Lukowski Robert, Ruth Peter, Kaczmarek Leonard K
Abstract excerpt
Gain-of-function mutations in KCNT1, the gene encoding Slack (KNa1.1) channels, result in epilepsy of infancy with migrating focal seizures (EIMFS) and several other forms of epilepsy associated with severe intellectual disability. We have generated a mouse model of this condition by replacing the wild type gene with one encoding Kcnt1R455H, a cytoplasmic C-terminal mutation homologous to a human R474H variant...
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