AI Networking Cookbook: Practical recipes for AI-assisted network automation and development
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BACKGROUND Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is a rare, paediatric onset, neurometabolic disorder caused by impaired cerebral glucose transport, leading to chronic brain energy deficiency. The classic ketogenic diet (CKD) is its established cornerstone therapy but it is not universally effective...
The available evidence suggests that pediatric CLIPPERS may present with neuroimaging findings extending beyond the classic pontocerebellar pattern, including supratentorial and spinal cord involvement in selected cases, while generally maintaining a corticosteroid-responsive course.
This case adds longitudinal clinical, neuroimaging, ophthalmological, and neuropsychological data to the limited literature on patients carrying the p.Arg272His variant, supporting further investigation of genotype–phenotype relationships in ARSACS.
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