Expanding the genetic and clinical characteristics of Protocadherin 19 gene mutations

• Hoofdauteurs: Giovanni Battista Dell'Isola (Auteur), Elisabetta Mencaroni (Auteur), Antonella Fattorusso (Auteur), Giorgia Tascini (Auteur), Paolo Prontera (Auteur), Valentina Imperatore (Auteur), Giuseppe Di Cara (Auteur), Pasquale Striano (Auteur), Alberto Verrotti (Auteur)
• Formaat: Boek
• Gepubliceerd in: BMC, 2022-08-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

Abstract 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 presen...