Vincenzo Sortino

Enna, 94100, Italy

Last Updated: 09/26/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 36 publications

Pediatric CLIPPERS: Expanding the Neuroimaging Spectrum of a Rare Steroid-Responsive Neuroinflammatory Syndrome-A Systematic Review.

Pediatric CLIPPERS: Expanding the Neuroimaging Spectrum of a Rare Steroid-Responsive Neuroinflammatory Syndrome-A Systematic Review.

Journal: Brain sciences
Published: June 17, 2026

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

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

Journal: Documenta ophthalmologica. Advances in ophthalmology
Published: May 23, 2026

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

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

Journal: Neurogenetics
Published: May 15, 2026

Beyond hypoxic-ischemic encephalopathy: genetic insights and precision diagnosis in neonatal encephalopathies.

Beyond hypoxic-ischemic encephalopathy: genetic insights and precision diagnosis in neonatal encephalopathies.

Journal: Frontiers in medicine
Published: April 28, 2026

From Growth Trajectory to Functional Decline: Age-Contextualized Nutritional Strategies for Muscle Vulnerability. A Narrative Review.

From Growth Trajectory to Functional Decline: Age-Contextualized Nutritional Strategies for Muscle Vulnerability. A Narrative Review.

Journal: Nutrients
Published: April 07, 2026

Rethinking GABAergic therapy in neonatal seizures: Beyond Scylla and Charybdis.

Rethinking GABAergic therapy in neonatal seizures: Beyond Scylla and Charybdis.

Journal: Epilepsia open
Published: March 17, 2026

WWOX-Related Epileptic Encephalopathy (WOREE Syndrome): Clinical Case Study and Literature Review.

WWOX-Related Epileptic Encephalopathy (WOREE Syndrome): Clinical Case Study and Literature Review.

Journal: Current issues in molecular biology
Published: March 15, 2026

Ketogenic Strategies in Neonatal Hypoxic-Ischemic Encephalopathy-The Road to Opening Up: A Scoping Review.

Ketogenic Strategies in Neonatal Hypoxic-Ischemic Encephalopathy-The Road to Opening Up: A Scoping Review.

Journal: Neurology international
Published: December 30, 2025

Chromothriptic Translocation t(1;18): A Paradigm of Genomic Complexity in a Child with Normal Intellectual Development and Pyridoxine-Dependent Epilepsy.

Chromothriptic Translocation t(1;18): A Paradigm of Genomic Complexity in a Child with Normal Intellectual Development and Pyridoxine-Dependent Epilepsy.

Journal: Genes
Published: October 21, 2025

Non-SMN-linked Spinal Muscular Atrophy: From Genes to Clinical Phenotypes via Diagnostic Implications; A Systematic Review.

Non-SMN-linked Spinal Muscular Atrophy: From Genes to Clinical Phenotypes via Diagnostic Implications; A Systematic Review.

Journal: Journal of child neurology
Published: October 15, 2025

Diagnosis of pediatric mitochondrial diseases via targeted next-generation sequencing (NGS): real-world data with the Blueprint Genetics® platform.

Diagnosis of pediatric mitochondrial diseases via targeted next-generation sequencing (NGS): real-world data with the Blueprint Genetics® platform.

Journal: Orphanet journal of rare diseases
Published: September 02, 2025

Toward a working definition of ketogenic diet resistance in GLUT1 deficiency syndrome.

Toward a working definition of ketogenic diet resistance in GLUT1 deficiency syndrome.

Journal: Epileptic disorders : international epilepsy journal with videotape
Published: July 21, 2025
Showing 1-12 of 36

Last Updated: 09/26/2026