Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly.
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Klöckner C, et al. Among authors: fernandez murray jp.
Brain. 2022 Jun 30;145(6):1916-1923. doi: 10.1093/brain/awac074.
Brain. 2022.
PMID: 35202461
Free PMC article.