Maria M. Mancardi

Genoa, Italy

Last Updated: 09/26/2026

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Found 117 publications

Epilepsy with fever-sensitivity in patients with ATP6V0C pathogenic variants.

Epilepsy with fever-sensitivity in patients with ATP6V0C pathogenic variants.

Journal: Seizure

Published: May 11, 2026

Symptom evolution, persistence, and pharmacological management in paediatric NMDA receptor antibody encephalitis.

Symptom evolution, persistence, and pharmacological management in paediatric NMDA receptor antibody encephalitis.

Journal: Brain, behavior, & immunity - health

Published: April 12, 2026

Real-world effectiveness and tolerability of highly purified cannabidiol in patients with monogenic developmental and epileptic encephalopathies with highly active epilepsy.

Real-world effectiveness and tolerability of highly purified cannabidiol in patients with monogenic developmental and epileptic encephalopathies with highly active epilepsy.

Journal: Epilepsy & behavior : E&B

Published: February 10, 2026

Electrographic-only seizures and status epilepticus in neonates with Tuberous Sclerosis Complex.

Electrographic-only seizures and status epilepticus in neonates with Tuberous Sclerosis Complex.

Journal: Pediatric research

Published: January 18, 2026

Efficacy of JAK1/2 inhibitors in AGS genes-related interferonopathies: A multicenter retrospective observational study with treated vs untreated comparison.

Efficacy of JAK1/2 inhibitors in AGS genes-related interferonopathies: A multicenter retrospective observational study with treated vs untreated comparison.

Journal: Molecular genetics and metabolism

Published: December 05, 2025

Isolated absence epilepsy associated with a de novo FBXW7 missense variant in the F-box domain.

Isolated absence epilepsy associated with a de novo FBXW7 missense variant in the F-box domain.

Journal: Epilepsia open

Published: October 24, 2025

Stereo-EEG in an epilepsy surgery program: Initial experience in a tertiary pediatric hospital in Italy.

Stereo-EEG in an epilepsy surgery program: Initial experience in a tertiary pediatric hospital in Italy.

Journal: Neurophysiologie clinique = Clinical neurophysiology

Published: October 10, 2025

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants.

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants.

Journal: Epilepsia

Published: October 02, 2025

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

A novel frameshift CUX2 variant in a patient with epilepsy and global developmental delay: Phenotypic and genotypic expansion.

A novel frameshift CUX2 variant in a patient with epilepsy and global developmental delay: Phenotypic and genotypic expansion.

Journal: European journal of medical genetics

Published: September 05, 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

Head to head comparison between arterial spin labelling MRI and [18F]FDG-PET in presurgical evaluation of epilepsy in children: the role of voxel-based asymmetry index analysis.

Head to head comparison between arterial spin labelling MRI and [18F]FDG-PET in presurgical evaluation of epilepsy in children: the role of voxel-based asymmetry index analysis.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: June 04, 2025

Showing 1-12 of 117

Last Updated: 09/26/2026