In humans, PURA heterozygous mutations underlay a complex dominant phenotype (PURA syndrome) characterized by moderate to severe hypotonia; neurodevelopmental, motor, and language delay; feeding difficulties; apneas; epileptic seizures; abnormal nonepileptic movements; visual problems; and, less commonly, congenital heart defects; urogenital malformations; skeletal abnormalities; and endocrine disorders [1,2,3,8]. The gene discussed is PURA; the disease is PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation.