Litcius/Paper detail

Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients

Ganna Balagura, Antonella Riva, Francesca Marchese, Michele Iacomino, Francesca Madia, Thea Giacomini, Maria Margherita Mancardi, Elisabetta Amadori, Maria Stella Vari, Vincenzo Salpietro, Angelo Russo, Tullio Messana, Aglaia Vignoli, Valentina Chiesa, Lucio Giordano, Patrizia Accorsi, Lorella Caffi, Alessandro Orsini, Alice Bonuccelli, Margherita Santucci, Marilena Vecchi, Francesca Vanadia, Giuseppe Milito, Carlo Fusco, Giovanni Cricchiutti, Marilisa Carpentieri, Lucia Margari, Alberto Spalice, Francesca Beccaria, Fabio Benfenati, Federico Zara, Pasquale Striano

2020European Journal of Paediatric Neurology28 citationsDOI

Topics & Concepts

Paroxysmal dyskinesiaEpilepsyPenetranceMedicineMissense mutationGenotypeProbandGeneticsPhenotypeInternal medicineMutationBiologyDyskinesiaPsychiatryGeneDiseaseParkinson's diseaseEpilepsy research and treatmentGenetics and Neurodevelopmental DisordersNeurological disorders and treatments