CrossRef Text and Data Mining
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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

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A Novel Pathogenic Variant (c.592_599del) in PCDH19 in a Korean Family with Epilepsy
Annals of Child Neurology. 2019;27(4):152-154   Crossref logo
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Identification of a pathogenic mutation in PCDH19-related female-limited epilepsy
. 2022;   Crossref logo
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X-chromosome inactivation and PCDH19-associated epileptic encephalopathy: A novel PCDH19 variant in a Chinese family
Clinica Chimica Acta. 2021;521:285-288   Crossref logo
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Acute-onset epilepsy triggered by fever mimicking FIRES (febrile infection-related epilepsy syndrome): The role of protocadherin 19 (PCDH19) gene mutation
Epilepsia. 2011;52(11):e172-e175   Crossref logo
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A novel PRRT2 pathogenic variant in a family with paroxysmal kinesigenic dyskinesia
IBRO Reports. 2019;6:S178   Crossref logo
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Case Report: Novel Likely Pathogenic ACTN2 Variant Causing Heterogeneous Phenotype in a Korean Family With Left Ventricular Non-compaction
Frontiers in Pediatrics. 2021;9:   Crossref logo

The role of PCDH19 in refractory status epilepticus
Epilepsy & Behavior. 2019;101:106539   Crossref logo
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PCDH19 -related epilepsy in a male with Klinefelter syndrome: Additional evidence supporting PCDH19 cellular interference disease mechanism
Epilepsy Research. 2018;145:89-92   Crossref logo
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Comparative characterization of PCDH19 missense and truncating variants in PCDH19-related epilepsy
Journal of Human Genetics. 2020;66(6):569-578   Crossref logo
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PCDH19-Related Epilepsy Syndrome: A Comprehensive Clinical Review
Pediatric Neurology. 2020;105:3-9   Crossref logo
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