PURA and PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation: At the age of 11 years, the diagnosis of PURA syndrome was confirmed through trio whole exome sequencing (Trio-WES), which revealed a de novo frameshift variant (c.399_400dup; p.Gln134ProfsTer92) of the PURA gene in the proband.