Annals of Child Neurology

CrossRef Text and Data Mining

Result of CrossRef Text and Data Mining Search is the related articles with entitled article. If you click link1 or link2 you will be able to reach the full text site of selected articles; however, some links do not show the full text immediately at now. If you click CrossRef Text and Data Mining Download icon, you will be able to get whole list of articles from literature included in CrossRef Text and Data Mining.

A Novel Pathogenic Variant (c.592_599del) in PCDH19 in a Korean Family with Epilepsy

You Na Park, Mi-Ae Jang, Soyoung Park

Ann Child Neurol. 2019;27(4):152-154. Published online December 3, 2019
DOI: https://doi.org/10.26815/acn.2019.00199

A Novel Pathogenic Variant (c.592_599del) in PCDH19 in a Korean Family with Epilepsy

You Na Park, Mi-Ae Jang, Soyoung Park

Annals of Child Neurology. 2019;27(4):152-154

Link1

Link2 Link3

Identification of a pathogenic mutation in PCDH19-related female-limited epilepsy

Yanzhao CHEN, Lipeng Chen, Dong Yao, Zhiping Liu, Keying Zhou, Yongjian YUE

. 2022;

Link1 Link2

X-chromosome inactivation and PCDH19-associated epileptic encephalopathy: A novel PCDH19 variant in a Chinese family

Ling-Yin Hung, Shreenidhi Ranganatha Subramaniam, Tsz-Yan Tammy Tong, Wing-Ki Chan, Eric Kin-Cheong Yau, Chor-Kwan Ching

Clinica Chimica Acta. 2021;521:285-288

Link1 Link2

Acute-onset epilepsy triggered by fever mimicking FIRES (febrile infection-related epilepsy syndrome): The role of protocadherin 19 (PCDH19) gene mutation

Nicola Specchio, Lucia Fusco, Federico Vigevano

Epilepsia. 2011;52(11):e172-e175

Link1 Link2

A novel PRRT2 pathogenic variant in a family with paroxysmal kinesigenic dyskinesia

Jialinzi He, Lili Long

IBRO Reports. 2019;6:S178

Link1 Link2

Case Report: Novel Likely Pathogenic ACTN2 Variant Causing Heterogeneous Phenotype in a Korean Family With Left Ventricular Non-compaction

Joonhong Park, Yong Gon Cho, Ha Wook Park, Jung Sun Cho

Frontiers in Pediatrics. 2021;9:

Link1

The role of PCDH19 in refractory status epilepticus

Marina Trivisano, Nicola Specchio

Epilepsy & Behavior. 2019;101:106539

Link1 Link2

PCDH19 -related epilepsy in a male with Klinefelter syndrome: Additional evidence supporting PCDH19 cellular interference disease mechanism

Edward 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 Tayoun

Epilepsy Research. 2018;145:89-92

Link1 Link2

Comparative characterization of PCDH19 missense and truncating variants in PCDH19-related epilepsy

Mami Shibata, Atsushi Ishii, Ayako Goto, Shinichi Hirose

Journal of Human Genetics. 2020;66(6):569-578

Link1

Link2 Link3

PCDH19-Related Epilepsy Syndrome: A Comprehensive Clinical Review

Debopam Samanta

Pediatric Neurology. 2020;105:3-9

Link1 Link2