Lucio Parmeggiani

Bolzano, Italy

Last Updated: 09/26/2026

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Found 17 publications

Correction: Open-label evaluation of oral trehalose in patients with neuronal ceroid lipofuscinoses.

Correction: Open-label evaluation of oral trehalose in patients with neuronal ceroid lipofuscinoses.

Journal: Journal of neurology

Published: October 15, 2025

Proceedings of the 15th International Newborn Brain Conference: Neonatal Neurocritical Care, seizures, and continuous aEEG and /or EEG monitoring: Fota Island, Cork, Ireland, February 28th - March 2nd 2024.

Proceedings of the 15th International Newborn Brain Conference: Neonatal Neurocritical Care, seizures, and continuous aEEG and /or EEG monitoring: Fota Island, Cork, Ireland, February 28th - March 2nd 2024.

Journal: Journal of neonatal-perinatal medicine

Published: August 05, 2024

Open-label evaluation of oral trehalose in patients with neuronal ceroid lipofuscinoses.

Open-label evaluation of oral trehalose in patients with neuronal ceroid lipofuscinoses.

Journal: Journal of neurology

Published: May 28, 2024

PPP3CA gene-related developmental and epileptic encephalopathy: Expanding the electro-clinical phenotype.

PPP3CA gene-related developmental and epileptic encephalopathy: Expanding the electro-clinical phenotype.

Journal: Seizure

Published: April 14, 2024

Proceedings of the 14th International Newborn Brain Conference: Neonatal Neurocritical Care, seizures, and continuous aEEG and /or EEG monitoring.

Proceedings of the 14th International Newborn Brain Conference: Neonatal Neurocritical Care, seizures, and continuous aEEG and /or EEG monitoring.

Journal: Journal of neonatal-perinatal medicine

Published: August 21, 2023

Bilateral temporal lobe dysplasia and seizure onset associated with biallelic CNTNAP2 variants.

Bilateral temporal lobe dysplasia and seizure onset associated with biallelic CNTNAP2 variants.

Journal: Epilepsia open

Published: July 31, 2023

Cannabidiol use in patients with Dravet syndrome and Lennox-Gastaut syndrome: experts' opinions using a nominal group technique (NGT) approach.

Cannabidiol use in patients with Dravet syndrome and Lennox-Gastaut syndrome: experts' opinions using a nominal group technique (NGT) approach.

Journal: Expert opinion on pharmacotherapy

Published: April 06, 2023

Early onset developmental and epileptic encephalopathy and Rett-like phenotype in a 15-year-old girl affected by Cornelia de Lange syndrome type 2 due to a SMC1A gene mutation.

Early onset developmental and epileptic encephalopathy and Rett-like phenotype in a 15-year-old girl affected by Cornelia de Lange syndrome type 2 due to a SMC1A gene mutation.

Journal: Epilepsy & behavior reports

Published: December 28, 2021

Distinct epilepsy phenotypes and response to drugs in KCNA1 gain- and loss-of function variants.

Distinct epilepsy phenotypes and response to drugs in KCNA1 gain- and loss-of function variants.

Journal: Epilepsia

Published: August 24, 2021

Lamina cribrosa perforation during nasotracheal intubation in neonates: case series and review of the literature.

Lamina cribrosa perforation during nasotracheal intubation in neonates: case series and review of the literature.

Journal: Clinical case reports

Published: February 03, 2021

Spinal cord involvement and paroxysmal events in "Infantile Onset Transient Hypomyelination" due to TMEM63A mutation.

Spinal cord involvement and paroxysmal events in "Infantile Onset Transient Hypomyelination" due to TMEM63A mutation.

Journal: Journal of human genetics

Published: January 10, 2021

LGI1 and CASPR2 autoimmunity in children: Systematic literature review and report of a young girl with Morvan syndrome.

LGI1 and CASPR2 autoimmunity in children: Systematic literature review and report of a young girl with Morvan syndrome.

Journal: Journal of neuroimmunology

Published: June 07, 2019

Showing 1-12 of 17

Last Updated: 09/26/2026