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PCDH19 gene

Known as: KIAA1313, EIEE9, PCDH19 
National Institutes of Health

Papers overview

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2020
2020
A novel PCDH19 missense mutation, c.812G>A (p.Gly271Asp), identified using whole‐exome sequencing in a Chinese family with epilepsy female restricted mental retardation syndrome
Epilepsy limited to females with mental retardation (EFMR) is a rare type of epilepsy with an X‐linked mode of inheritance, which… 
2020
2020
Identification of PCDH19 Gene Mutations/Deletions in Patients with Early Onset Epilepsy
Background and Aims:PCDH19 gene, which encodes protocadherin 19, is associated with epilepsy and intellectual disability, mainly… 
Review
2019
Review
2019
The role of PCDH19 in refractory status epilepticus
2019
2019
A Novel Pathogenic Variant (c.592_599del) in PCDH19 in a Korean Family with Epilepsy
Protocadherin 19 (PCDH19)-related epilepsy is an X-linked epilepsy syndrome characterized by afebrile or febrile seizures… 
2016
2016
[Genotype and phenotype of female Dravet syndrome with PCDH19 mutations].
OBJECTIVE To explore the genotype and phenotype of female Dravet syndrome (DS) patients with PCDH19 mutations. METHOD Clinical… 
2015
2015
PCDH19 mutations in female patients from Southern Italy
2015
2015
Cognitive development in females with PCDH19 gene-related epilepsy
2015
2015
P13 – 2298: PCDH19 related epileptic encephalopathy in a 9-year-old girl – Case report
2015
2015
PP01.1 – 2565: Next generation sequencing analysis in neonatal/early epileptic encephalopathy
2012
2012
A familial epilepsy with behavioural features associated with a PCDH19 mutation
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