Fabrizia Stregapede

Rome, Italy

Last Updated: 09/26/2026

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Found 21 publications

Early Clinical and EEG Association of Genotype and Outcome in Genetic Epilepsies: A Cohort Study and Hierarchical Clustering Analysis.

Early Clinical and EEG Association of Genotype and Outcome in Genetic Epilepsies: A Cohort Study and Hierarchical Clustering Analysis.

Journal: Neurology

Published: March 12, 2026

Phenotypic expansion of CALM1/2-associated disorders to include neurologic phenotypes without arrhythmia.

Phenotypic expansion of CALM1/2-associated disorders to include neurologic phenotypes without arrhythmia.

Journal: Human molecular genetics

Published: August 29, 2025

Autosomal dominant POLR3B variants: Phenotypic continuum and perspectives on its role as an epilepsy gene.

Autosomal dominant POLR3B variants: Phenotypic continuum and perspectives on its role as an epilepsy gene.

Journal: Epilepsia

Published: December 20, 2024

MTSS2 -Related Disorder: Refining the Phenotype in Four New Cases and Literature Review.

MTSS2 -Related Disorder: Refining the Phenotype in Four New Cases and Literature Review.

Journal: American journal of medical genetics. Part A

Published: November 11, 2024

POLR3B de novo variants are a rare cause of infantile myoclonic epilepsy.

POLR3B de novo variants are a rare cause of infantile myoclonic epilepsy.

Journal: Seizure

Published: May 28, 2024

Refining of the electroclinical phenotype in familial and sporadic cases of CSNK2B-related Neurodevelopmental Syndrome.

Refining of the electroclinical phenotype in familial and sporadic cases of CSNK2B-related Neurodevelopmental Syndrome.

Journal: Epilepsy & behavior : E&B

Published: July 04, 2023

"Atypical" Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant.

"Atypical" Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant.

Journal: European journal of human genetics : EJHG

Published: December 27, 2021

Hypoventilation and sleep hypercapnia in a case of congenital variant-like Rett syndrome.

Hypoventilation and sleep hypercapnia in a case of congenital variant-like Rett syndrome.

Journal: Italian journal of pediatrics

Published: December 02, 2021

A Novel KCNA2 Variant in a Patient with Non-Progressive Congenital Ataxia and Epilepsy: Functional Characterization and Sensitivity to 4-Aminopyridine.

A Novel KCNA2 Variant in a Patient with Non-Progressive Congenital Ataxia and Epilepsy: Functional Characterization and Sensitivity to 4-Aminopyridine.

Journal: International journal of molecular sciences

Published: July 15, 2021

Expanding the Clinical and Mutational Spectrum of the PLP1-Related Hypomyelination of Early Myelinated Structures (HEMS).

Expanding the Clinical and Mutational Spectrum of the PLP1-Related Hypomyelination of Early Myelinated Structures (HEMS).

Journal: Brain sciences

Published: December 07, 2020

Movement disorders in ADAR1 disease: Insights from a comprehensive cohort.

Movement disorders in ADAR1 disease: Insights from a comprehensive cohort.

Journal: Parkinsonism & related disorders

Published: May 28, 2020

Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias.

Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias.

Journal: International journal of molecular sciences

Published: May 11, 2020

Showing 1-12 of 21

Last Updated: 09/26/2026