Article
A new case with the recurrent PURA p.(Phe233del) pathogenic variant: Expansion of the phenotype and review of the literature.
International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience - 1 Jun 2023
Ben Issa Abir, Ben Ayed Ikhlas, Jallouli Olfa, Souissi Amal, Bouchaalla Wafa, Ben Said Mariem, Mallouli Salma, Masmoudi Saber, Charfi Triki Chahnez, Hadj Kacem Hassen, Kammoun Fatma
Abstract excerpt
In the process of neuronal development, the protein Purα (encoded by the PURA gene) is essential for neuronal proliferation, dendritic maturation, and the transportation of mRNA to translation sites. Mutations in the PURA gene may alter normal brain development and impair neuronal function, contributing to developmental delays and seizures. Recently, PURA syndrome is described as developmental encephalopathy with...
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