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Heterozygous expression of a Kcnt1 gain-of-function variant has differential effects on SST- and PV-expressing cortical GABAergic neurons
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 ty...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cold Spring Harbor Laboratory
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10592778/ https://www.ncbi.nlm.nih.gov/pubmed/37873369 http://dx.doi.org/10.1101/2023.10.11.561953 |