CACNA1A and spinocerebellar ataxia type 6: WES analysis on the present study also detected other missense heterozygous variants in genes potentially associated with neurodevelopmental disorders (Table S1), including SRCAP (MIM*611421), associated with Developmental delay, hypotonia, musculoskeletal defect and behavioral abnormalities (MIM#619595) and Floating-Harbor syndrome (MIM#136140), and CACNA1A (MIM*601011), associated with autosomal dominant conditions such as Developmental and epileptic encephalopathies (MIM#617106), episodic ataxia (MIM#108500) and Spinocerebellar ataxia type 6 (MIM#183086).