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Expanding the genetic and clinical characteristics of Protocadherin 19 gene mutations

BACKGROUND: PCDH19-related epilepsy is a rare X-linked type of epilepsy caused by genomic variants of the Protocadherin 19 (PCDH19) gene. The clinical characteristics of PCDH19-related epilepsy are epileptic and non-epileptic symptoms with highly variable severity among patients. CASE PRESENTATION:...

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Detalles Bibliográficos
Autores principales:	Dell’Isola, Giovanni Battista, Mencaroni, Elisabetta, Fattorusso, Antonella, Tascini, Giorgia, Prontera, Paolo, Imperatore, Valentina, Di Cara, Giuseppe, Striano, Pasquale, Verrotti, Alberto
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9386923/ https://www.ncbi.nlm.nih.gov/pubmed/35978409 http://dx.doi.org/10.1186/s12920-022-01313-w

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