R. Falsaperla

Beyond the classic ketogenic diet: A systematic review of alternative and adjunctive therapies for GLUT1 deficiency syndrome.

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...

Paroxysmal tonic upgaze mimicking epileptic seizures in infancy: a diagnostic challenge.

The recurrent SACS gene p.Arg272His hotspot expands the neurodevelopmental and cognitive spectrum of ARSACS

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.