PURA and PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation: PURA-related neurodevelopmental disorders include Mental Retardation autosomal Dominant 31 (MRD31, #OMIM 616158) or PURA syndrome, caused by heterozygous mutations in the PURA gene or a 5q31.3 deletion affecting completely or partially eliminating the PURA sequence (Brown et al., 2013; Hunt et al., 2014; Lalani et al., 2014; Tanaka et al., 2015).