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<jats:title>Abstract</jats:title><jats:p>In the process of neuronal development, the protein Purα (encoded by the <jats:italic>PURA</jats:italic> gene) is essential for neuronal proliferation, dendritic maturation, and the transportation of mRNA to translation sites. Mutations in the <jats:italic>PURA</jats:italic> gene may alter normal brain development and impair neuronal function, contributing to developmental delays and seizures. Recently, <jats:italic>PURA</jats:italic> syndrome is described as developmental encephalopathy with or without epilepsy, neonatal hypotonia, feeding difficulties, global developmental delay, and severe intellectual disability. In our study, we aimed to perform a genetic analysis by whole exome sequencing (WES) in a Tunisian patient presented with developmental and epileptic encephalopathy to provide a molecular explanation for the developed phenotype. We collected, also, clinical data of all <jats:italic>PURA</jats:italic> p.(Phe233del) patients reported yet and compared the clinical features with those of our patient. Results revealed the presence of the known <jats:italic>PURA</jats:italic> c.697_699del, p.(Phe233del) variant. Our studied case shares some clinical features including hypotonia, feeding difficulties, severe developmental delay, epilepsy, and language delay (nonverbal) but presents a radiological finding undescribed before. Our finding defines and expands the phenotypic and genotypic spectrum of the <jats:italic>PURA</jats:italic> syndrome supporting the absence of reliable genotype–phenotype correlations and the existence of a highly variable, wide‐ranging clinical spectrum.</jats:p>