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PCDH19 gene

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

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
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… 
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… 
Review
2019
Review
2019
079 Genetic testing in epilepsy: a new imperative for precision
We reviewed the results of testing in patients from the West of Scotland attending adult epilepsy clinics with MRI-negative drug… 
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
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
Review
2013
Review
2013
Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders
Epilepsy and mental retardation limited to females (EFMR), caused by PCDH19 mutations, has a variable clinical expression that… 
2012
2012
A familial epilepsy with behavioural features associated with a PCDH19 mutation
2012
2012
Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMR
The occurrence of epilepsy with mental retardation limited to females (EFMR; MIM 300088) has been recently associated to… 
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