Genetic & Genomic MedicineBrainPeer-reviewed
Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly
Chiara Klöckner, J. Pedro Fernández-Murray, Mahtab Tavasoli…·Konrad Platzer
The paper identifies bi-allelic CHKA variants causing a neurodevelopmental disorder with epilepsy and microcephaly through functional analysis in yeast.
17 citations