Giuliana Messina

Milan, 20133, Italy

Last Updated: 09/26/2026

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Found 13 publications

ARFGEF2-Related Periventricular Nodular Heterotopia: A Case Report and Literature Review.

ARFGEF2-Related Periventricular Nodular Heterotopia: A Case Report and Literature Review.

Journal: NeuroSci
Published: April 17, 2026

Compound Heterozygous PNKP Variants Causing Developmental and Epileptic Encephalopathy with Severe Microcephaly: Natural History of Two New Cases and Literature Review.

Compound Heterozygous PNKP Variants Causing Developmental and Epileptic Encephalopathy with Severe Microcephaly: Natural History of Two New Cases and Literature Review.

Journal: NeuroSci
Published: June 10, 2025

Pharmacological approaches in drug-resistant pediatric epilepsies caused by pathogenic variants in potassium channel genes.

Pharmacological approaches in drug-resistant pediatric epilepsies caused by pathogenic variants in potassium channel genes.

Journal: Frontiers in cellular neuroscience
Published: October 16, 2024

Paroxysmal Non-Kinesigenic Dyskinesias Associated with Biallelic POLG Variants: A Case Report.

Paroxysmal Non-Kinesigenic Dyskinesias Associated with Biallelic POLG Variants: A Case Report.

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: July 25, 2024

Next-generation sequencing in pediatric-onset epilepsies: Analysis with target panels and personalized therapeutic approach.

Next-generation sequencing in pediatric-onset epilepsies: Analysis with target panels and personalized therapeutic approach.

Journal: Epilepsia open
Published: February 10, 2024

Case report: Marked electroclinical improvement by fluoxetine treatment in a patient with KCNT1-related drug-resistant focal epilepsy.

Case report: Marked electroclinical improvement by fluoxetine treatment in a patient with KCNT1-related drug-resistant focal epilepsy.

Journal: Frontiers in cellular neuroscience
Published: January 09, 2024

A novel de novo HCN2 loss-of-function variant causing developmental and epileptic encephalopathy treated with a ketogenic diet.

A novel de novo HCN2 loss-of-function variant causing developmental and epileptic encephalopathy treated with a ketogenic diet.

Journal: Epilepsia
Published: July 13, 2023

A novel KCNC1 gain-of-function variant causing developmental and epileptic encephalopathy: "Precision medicine" approach with fluoxetine.

A novel KCNC1 gain-of-function variant causing developmental and epileptic encephalopathy: "Precision medicine" approach with fluoxetine.

Journal: Epilepsia
Published: January 05, 2023

Progressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypes.

Progressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypes.

Journal: Epilepsia open
Published: November 06, 2022

Paroxysmal tonic upgaze in a child with SCN8A-related encephalopathy.

Paroxysmal tonic upgaze in a child with SCN8A-related encephalopathy.

Journal: Epileptic disorders : international epilepsy journal with videotape
Published: July 14, 2021

Severe epilepsy in CNTNAP2-related Pitt-Hopkins-like syndrome successfully treated with stiripentol.

Severe epilepsy in CNTNAP2-related Pitt-Hopkins-like syndrome successfully treated with stiripentol.

Journal: Seizure
Published: December 10, 2020

SCN8A splicing mutation causing skipping of the exon 15 associated with intellectual disability and cortical myoclonus.

SCN8A splicing mutation causing skipping of the exon 15 associated with intellectual disability and cortical myoclonus.

Journal: Seizure
Published: August 13, 2020
Showing 1-12 of 13

Last Updated: 09/26/2026