An Epilepsy-Associated Mutation of Salt-Inducible Kinase 1 Increases the Susceptibility to Epileptic Seizures and Interferes with Adrenocorticotropic Hormone Therapy for Infantile Spasms in Mice

Six mutations in the salt-inducible kinase 1 (SIK1) have been identified in developmental and epileptic encephalopathy (DEE-30) patients, and two of the mutations are nonsense mutations that truncate the C-terminal region of SIK1. In a previous study, we generated SIK1 mutant (SIK1-MT) mice recapitu...

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Detalles Bibliográficos
Autores principales: Pang, Bo, Mori, Takuma, Badawi, Moataz, Zhou, Mengyun, Guo, Qi, Suzuki-Kouyama, Emi, Yanagawa, Toru, Shirai, Yoshinori, Tabuchi, Katsuhiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9319016/
https://www.ncbi.nlm.nih.gov/pubmed/35887274
http://dx.doi.org/10.3390/ijms23147927

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9319016/
https://www.ncbi.nlm.nih.gov/pubmed/35887274
http://dx.doi.org/10.3390/ijms23147927

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