KCNA2-related disorder is characterized by DD/ID, early-onset developmental and epileptic encephalopathy, and cerebellar movement disorders at the more sever phenotypic end of the spectrum. The somewhat milder end comprises a milder course of epilepsy, complicated hereditary spastic paraplegia, and episodic ataxia.
KCNA2-related disorder is inherited in an autosomal dominant manner. The pathogenic KCNA2 variant is usually of de novo origin but can be inherited, particularly in familial cases with milder forms of the phenotype.
KCNA2