A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability

Chia PH, Zhong FL, Niwa S, Bonnard C, Utami KH, Zeng R, Lee H, Eskin A, Nelson SF, Xie WH, Al-Tawalbeh S, El-Khateeb M, Shboul M, Pouladi MA, Al-Raqad M, Reversade B.

Elife, 2018

Summary:

Explore how Maestro MEA technology helped to reveal how a recessive germline mutation in CAMK2A leads to neurodevelopmental defects and may contribute to other neurological disorders.