Expanding the genetic and clinical characteristics of Protocadherin 19 gene mutations

• প্রধান লেখক: Giovanni Battista Dell'Isola (লেখক), Elisabetta Mencaroni (লেখক), Antonella Fattorusso (লেখক), Giorgia Tascini (লেখক), Paolo Prontera (লেখক), Valentina Imperatore (লেখক), Giuseppe Di Cara (লেখক), Pasquale Striano (লেখক), Alberto Verrotti (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: BMC, 2022-08-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: 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...