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...

Descripción completa

Detalles Bibliográficos
Autores principales: Shore, Amy N., Qunies, Alshaima’a M., Spitznagel, Brittany D., Weaver, C. David, Emmitte, Kyle A., Frankel, Wayne N., Weston, Matthew C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
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

Internet

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

Ejemplares similares