Concepedia

Roberta Epifanio

RE

14

Publications

464

Citations

12

H-Index

2004

Active since

Affiliations

IRCCS Eugenio Medea(Current)

Istituti di Ricovero e Cura a Carattere Scientifico

Sapienza University of Rome

Fondazione IRCCS Istituto Neurologico Carlo Besta

Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia

Roberta Epifanio is an author at IRCCS Eugenio Medea specializing in medicine, neuroscience, and social sciences.

ORCID

Top concepts

Publications per year

2004–2022

14

Publications

14

Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

Ivan Ivanovski, Olivera Djurić, Stefano Giuseppe Caraffi et al. · Genetics in Medicine · 2018 · 102 citations · Full text

A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation

Romina Romaniello, Claudio Zucca, A. Tonelli et al. · Journal of Neurology Neurosurgery & Psychiatry · 2010 · 64 citations

Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients

Livia Garavelli, Ivan Ivanovski, Stefano Giuseppe Caraffi et al. · Genetics in Medicine · 2016 · 54 citations · Full text

Epilepsy in Mowat–Wilson syndrome: Delineation of the electroclinical phenotype

Duccio Maria Cordelli, Livia Garavelli, Salvatore Savasta et al. · American Journal of Medical Genetics Part A · 2013 · 48 citations

Cryptogenic Epileptic Syndromes Related to SCN1A

Claudio Zucca, Francesca Redaelli, Roberta Epifanio et al. · Archives of Neurology · 2008 · 46 citations · Full text

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