Topic: eag

2- 3% of population are affected by neurodevelopmental disorders (NDDs), causing severe intellectual impairment, health complications and reduced life expectancy. In approximately half of the affected individuals the causal genetic variants remain unknown. Utilizing a comprehensive genetic screening strategy in a cohort of consanguineous families with multiple affected children, several gene variants associated with NDDs were identified. Among these, KCNH5 emerged as a compelling candidate due to its high expression in the nervous system and high degree of conservation in Drosophila melanogast