Expanding the genetic and clinical characteristics of Protocadherin 19 gene mutations

• Main Authors: Giovanni Battista Dell'Isola (Author), Elisabetta Mencaroni (Author), Antonella Fattorusso (Author), Giorgia Tascini (Author), Paolo Prontera (Author), Valentina Imperatore (Author), Giuseppe Di Cara (Author), Pasquale Striano (Author), Alberto Verrotti (Author)
• Format: Book
• Published: BMC, 2022-08-01T00:00:00Z.
• Subjects: article
• Online Access: 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...