PublisherDOIYearVolumeIssuePageTitleAuthor(s)Link
Annals of Child Neurology10.26815/acn.2019.001992019274152-154A Novel Pathogenic Variant (c.592_599del) in PCDH19 in a Korean Family with EpilepsyYou Na Park, Mi-Ae Jang, Soyoung Parkhttp://annchildneurol.org/upload/pdf/acn-2019-00199.pdf, http://annchildneurol.org/journal/view.php?doi=10.26815/acn.2019.00199, http://annchildneurol.org/upload/pdf/acn-2019-00199.pdf
10.21203/rs.3.rs-1895761/v12022Identification of a pathogenic mutation in PCDH19-related female-limited epilepsyYanzhao CHEN, Lipeng Chen, Dong Yao, Zhiping Liu, Keying Zhou, Yongjian YUEhttps://www.researchsquare.com/article/rs-1895761/v1, https://www.researchsquare.com/article/rs-1895761/v1.html
Clinica Chimica Acta10.1016/j.cca.2021.07.0232021521285-288X-chromosome inactivation and PCDH19-associated epileptic encephalopathy: A novel PCDH19 variant in a Chinese familyLing-Yin Hung, Shreenidhi Ranganatha Subramaniam, Tsz-Yan Tammy Tong, Wing-Ki Chan, Eric Kin-Cheong Yau, Chor-Kwan Chinghttps://api.elsevier.com/content/article/PII:S0009898121002631?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0009898121002631?httpAccept=text/plain
Epilepsia10.1111/j.1528-1167.2011.03193.x20115211e172-e175Acute-onset epilepsy triggered by fever mimicking FIRES (febrile infection-related epilepsy syndrome): The role of protocadherin 19 (PCDH19) gene mutationNicola Specchio, Lucia Fusco, Federico Vigevanohttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1528-1167.2011.03193.x, http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1528-1167.2011.03193.x/fullpdf
IBRO Reports10.1016/j.ibror.2019.07.56020196S178A novel PRRT2 pathogenic variant in a family with paroxysmal kinesigenic dyskinesiaJialinzi He, Lili Longhttps://api.elsevier.com/content/article/PII:S2451830119306120?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S2451830119306120?httpAccept=text/plain
Frontiers in Pediatrics10.3389/fped.2021.60938920219Case Report: Novel Likely Pathogenic ACTN2 Variant Causing Heterogeneous Phenotype in a Korean Family With Left Ventricular Non-compactionJoonhong Park, Yong Gon Cho, Ha Wook Park, Jung Sun Chohttps://www.frontiersin.org/articles/10.3389/fped.2021.609389/full
Epilepsy & Behavior10.1016/j.yebeh.2019.1065392019101106539The role of PCDH19 in refractory status epilepticusMarina Trivisano, Nicola Specchiohttps://api.elsevier.com/content/article/PII:S1525505019308534?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S1525505019308534?httpAccept=text/plain
Epilepsy Research10.1016/j.eplepsyres.2018.06.008201814589-92PCDH19 -related epilepsy in a male with Klinefelter syndrome: Additional evidence supporting PCDH19 cellular interference disease mechanismEdward J. Romasko, Elizabeth T. DeChene, Jorune Balciuniene, Gozde T. Akgumus, Ingo Helbig, Jennifer M. Tarpinian, Beth A. Keena, Maria G. Vogiatzi, Elaine H. Zackai, Kosuke Izumi, Shavonne L. Massey, Ahmad N. Abou Tayounhttps://api.elsevier.com/content/article/PII:S0920121118300287?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0920121118300287?httpAccept=text/plain
Journal of Human Genetics10.1038/s10038-020-00880-z2020666569-578Comparative characterization of PCDH19 missense and truncating variants in PCDH19-related epilepsyMami Shibata, Atsushi Ishii, Ayako Goto, Shinichi Hirosehttp://www.nature.com/articles/s10038-020-00880-z.pdf, http://www.nature.com/articles/s10038-020-00880-z, http://www.nature.com/articles/s10038-020-00880-z.pdf
Pediatric Neurology10.1016/j.pediatrneurol.2019.10.00920201053-9PCDH19-Related Epilepsy Syndrome: A Comprehensive Clinical ReviewDebopam Samantahttps://api.elsevier.com/content/article/PII:S0887899419309269?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0887899419309269?httpAccept=text/plain