Clinical characteristics of KCNMA1-linked channelopathy fall under four main categories including seizure/epilepsy disorder, movement disorder, developmental delay, and brain and tissue malformations. More detailed information about the different overlapping manifestations can be found under the Professionals – clinical characteristics tab. The graphic below lists some, but not all, organ systems and symptoms associated with KCNMA1 gene variants.
From (Bailey et al. (2019))
