Identification and functional analysis of two new de novo <i>KCNMA1</i> variants associated with Liang–Wang syndrome

Abstract

Our findings identified two new loss-of-function mutations of KCNMA1 associated with Liang-Wang syndrome, expanded the spectrum of clinical features associated with gain-of-function KCNMA1 variants and emphasized the overlapping features shared by gain-of-function and loss-of-function mutations.