CACNA1A and ethylmalonic encephalopathy: However, with advanced next-generation sequencing techniques, CACNA1A variants have been linked to more wider phenotypic spectrum including global developmental delay (GDD)/intellectual disability (ID), epileptic encephalopathy (EE), and autism spectrum disorder (ASD) (Kessi et al., 2021; Indelicato and Boesch, 2023).