Maria S. Vari

Genoa, 16147, Italy

Last Updated: 09/26/2026

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Found 48 publications

Studying Familial Bainbridge-Ropers Syndrome Due to a Novel ASXL3 Germline Variant and Expanding the Clinical Spectrum.

Studying Familial Bainbridge-Ropers Syndrome Due to a Novel ASXL3 Germline Variant and Expanding the Clinical Spectrum.

Journal: Children (Basel, Switzerland)

Published: March 25, 2026

Is cognitive profiling in NF1 still optional? A systematic review of current assessment practices.

Is cognitive profiling in NF1 still optional? A systematic review of current assessment practices.

Journal: Frontiers in neurology

Published: January 23, 2026

First demyelinating attack in children: A twelve year single center cohort.

First demyelinating attack in children: A twelve year single center cohort.

Journal: Multiple sclerosis and related disorders

Published: September 15, 2025

Lennox-Gastaut syndrome unveiled: Advancing diagnosis, therapies, and advocacy-insights from the Genoa International Workshop.

Lennox-Gastaut syndrome unveiled: Advancing diagnosis, therapies, and advocacy-insights from the Genoa International Workshop.

Journal: Epilepsia

Published: July 25, 2025

West Nile Infection and Kidney Disease: Description of Two Clinical Cases in Peritoneal Dialysis Patients

West Nile Infection and Kidney Disease: Description of Two Clinical Cases in Peritoneal Dialysis Patients

Journal: Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia

Published: March 01, 2024

A proposal for a shared therapeutic algorithm in children with prolonged convulsive seizures and status epilepticus.

A proposal for a shared therapeutic algorithm in children with prolonged convulsive seizures and status epilepticus.

Journal: Expert review of neurotherapeutics

Published: January 17, 2024

Early Developmental Intervention and Enriched Environment in CDKL5 Developmental and Epileptic Encephalopathy: A Case Report.

Early Developmental Intervention and Enriched Environment in CDKL5 Developmental and Epileptic Encephalopathy: A Case Report.

Journal: Neurology. Clinical practice

Published: November 22, 2023

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.

Journal: medRxiv : the preprint server for health sciences

Published: March 03, 2023

Neuroimaging Features of Biotinidase Deficiency.

Neuroimaging Features of Biotinidase Deficiency.

Journal: AJNR. American journal of neuroradiology

Published: September 26, 2022

Current and promising therapeutic options for Dravet syndrome.

Current and promising therapeutic options for Dravet syndrome.

Journal: Expert opinion on pharmacotherapy

Published: September 20, 2022

A real-life pilot study of the clinical application of pharmacogenomics testing on saliva in epilepsy.

A real-life pilot study of the clinical application of pharmacogenomics testing on saliva in epilepsy.

Journal: Epilepsia open

Published: September 14, 2022

Pediatric SARS-CoV-2-Related Diplopia and Mesencephalic Abnormalities.

Pediatric SARS-CoV-2-Related Diplopia and Mesencephalic Abnormalities.

Journal: Neurology. Clinical practice

Published: April 14, 2022

Showing 1-12 of 48

Last Updated: 09/26/2026