Publications by authors named "Wafa Bouchaalla"
Int J Dev Neurosci
June 2023
Article Synopsis
- The protein Purα, important for brain development, is encoded by the PURA gene, and mutations in this gene can lead to developmental disorders and impair neuronal function.
- PURA syndrome is associated with severe developmental issues, including hypotonia, feeding difficulties, and intellectual disability, which can manifest as developmental and epileptic encephalopathy.
- In a study of a Tunisian patient with PURA syndrome, researchers identified the PURA gene mutation p.(Phe233del) and noted that while there are some shared clinical traits, the patient also exhibited a unique radiological finding, highlighting the variability in symptoms among those affected.
