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

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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Bibliographic Details
Main Authors: Bo Pang, Takuma Mori, Moataz Badawi, Mengyun Zhou, Qi Guo, Emi Suzuki-Kouyama, Toru Yanagawa, Yoshinori Shirai, Katsuhiko Tabuchi
Format: Article
Language:English
Published: MDPI AG 2022-07-01
Series:International Journal of Molecular Sciences
Subjects:
SIK1
DEE-30
infantile spasms
ACTH
NMDA
Online Access:https://www.mdpi.com/1422-0067/23/14/7927

Internet

https://www.mdpi.com/1422-0067/23/14/7927

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