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PCDH19 gene

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

Papers overview

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Highly Cited
2017
Highly Cited
2017
Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy
2017
2017
Reduced steroidogenesis in patients with PCDH19‐female limited epilepsy
Patients affected by protocadherin 19 (PCDH19)–female limited epilepsy (PCDH19‐FE) present a remarkable reduction in… 
Highly Cited
2015
Highly Cited
2015
Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.
Protocadherin 19 (PCDH19) female limited epilepsy (PCDH19-FE; also known as epilepsy and mental retardation limited to females… 
Highly Cited
2013
Highly Cited
2013
PCDH19-related female-limited epilepsy: Further details regarding early clinical features and therapeutic efficacy
Review
2012
Review
2012
Genes of early-onset epileptic encephalopathies: from genotype to phenotype.
Review
2012
Review
2012
Cognitive and behavioral profile in females with epilepsy with PDCH19 mutation: Two novel mutations and review of the literature
Highly Cited
2012
Highly Cited
2012
Febrile infection‐related epilepsy syndrome (FIRES) is not caused by SCN1A, POLG, PCDH19 mutations or rare copy number variations
Aim  Febrile infection‐related epilepsy syndrome (FIRES) is an enigmatic seizure disorder in childhood with an innocuous febrile… 
Highly Cited
2011
Highly Cited
2011
Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations
Purpose:  To describe clinical and neuropsychological features of six consecutive sporadic girls with protocadherin 19 (PCDH19… 
2011
2011
Acute‐onset epilepsy triggered by fever mimicking FIRES (febrile infection–related epilepsy syndrome): The role of protocadherin 19 (PCDH19) gene mutation
To report differences and similarities between febrile infection–related epilepsy syndrome (FIRES) and epilepsy in female… 
Highly Cited
2009
Highly Cited
2009
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families
Background Epilepsy and mental retardation limited to females (EFMR) is an intriguing X-linked disorder affecting heterozygous… 
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