PURA (purine rich element binding protein A) is a DNA/RNA-binding transcription factor located on chromosome 5.3 that plays essential roles in transcriptional and translational regulation 1. The protein specifically binds purine-rich regulatory elements upstream of the MYC gene and may participate in DNA replication initiation and recombination. PURA is particularly vital for neuronal development and synapse formation 2. Pathogenic variants in PURA cause PURA-related neurodevelopmental disorder (PURA-NDD), an autosomal dominant condition characterized by neurodevelopmental delay, learning disability, neonatal hypotonia, feeding difficulties, abnormal movements, and epilepsy 3. Clinical severity correlates with deletion size encompassing PUR repeats rather than variant location, with protein-truncating variants associated with more severe speech deficits than non-truncating variants 4. Recent evidence suggests PURA-NDD has neuromuscular manifestations resembling congenital myasthenic syndromes, with some patients showing treatment response to pyridostigmine or salbutamol 35. Diagnostic exome sequencing identified PURA as a novel disease gene in epilepsy patients 6, and therapeutic approaches using poly(A) tail mimetics show promise for enhancing PURA expression in haploinsufficiency-related disorders 7.