Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients.

doi:10.1016/j.ejpn.2020.06.005

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Article

Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Sept 2020

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

Abstract excerpt

Prrt2 is a neuron-specific protein expressed at axonal and pre-synaptic domains, involved in synaptic neurotransmitter release and modulation of intrinsic excitability. Mutations in PRRT2 cause a spectrum of autosomal dominant paroxysmal neurological disorders including epilepsy, movement disorders, and hemiplegic migraine and show incomplete penetrance and variable expressivity. We assessed the diagnostic rate...

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PMID: 32651081
DOI: 10.1016/j.ejpn.2020.06.005

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