A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability
纯合功能丧失的 CAMK2A 突变导致生长迟缓、频繁癫痫发作和严重智力障碍
期刊:Elife
影响因子:6.4
doi:10.7554/eLife.32451
Poh Hui Chia #, Franklin Lei Zhong #, Shinsuke Niwa #, Carine Bonnard, Kagistia Hana Utami, Ruizhu Zeng, Hane Lee, Ascia Eskin, Stanley F Nelson, William H Xie, Samah Al-Tawalbeh, Mohammad El-Khateeb, Mohammad Shboul, Mahmoud A Pouladi, Mohammed Al-Raqad, Bruno Reversade
神经
癫痫
IHC
Mouse
IgG light chain
