Publications by authors named "Mohammed Abunada"
BMC Neurol
September 2024
Article Synopsis
- * A nine-month-old boy displayed symptoms like psychomotor regression, vision loss, and seizures, ultimately leading to his death at 44 months due to complications from his condition, with genetic testing revealing a novel variant in the KCTD7 gene.
- * This case contributes to the limited understanding of CLN14 and highlights the potential for genetic testing to identify more cases and variations in symptoms associated with NCL.
