Associated Papers
Molecular Profiling of Polish Pediatric Patients with Epilepsy: A Single-Center Diagnostic Experience Using Next-Generation Sequencing.
Chałupczyńska B et al.
Genes, 2026
Genetic Etiology of Developmental and Epileptic Encephalopathy in a Turkish Cohort: A Single-Center Study with Targeted Gene Panel and Whole Exome Sequencing.
Sunnetci-Akkoyunlu D et al.
Genes, 2025
Phenotypic and genotypic characteristics of children with PCDH19 clustering epilepsy in China.
Feng W et al.
Seizure, 2024
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.
Cavirani B et al.
International Journal of Molecular Sciences, 2024
38279250 (PubMed )
Supplement: ijms-25-01248-s001.zip › Tab_supp_S1.xlsx › Foglio1
Comparative characterization of PCDH19 missense and truncating variants in PCDH19-related epilepsy.
Shibata M et al.
Journal of Human Genetics, 2021
33262389 (PubMed )
Supplement: 10038_2020_880_MOESM3_ESM.xlsx › Supplemental_Table_1
Evaluating variants classified as pathogenic in ClinVar in the DDD Study.
Wright CF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33149276 (PubMed )
Supplement: 41436_2020_1021_MOESM1_ESM.xlsx › SuppTable1_Reported
A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy.
Kolc KL et al.
Translational Psychiatry, 2020
Novel and de novo mutation of PCDH19 in Girls Clustering Epilepsy.
Yang L et al.
Brain and Behavior, 2019
A mutation update for the PCDH19 gene causing early-onset epilepsy in females with an unusual expression pattern.
Niazi R et al.
Human Mutation, 2019
A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity.
Kolc KL et al.
Molecular Psychiatry, 2019
PCDH19-related epilepsy is associated with a broad neurodevelopmental spectrum.
Smith L et al.
Epilepsia, 2018
Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel.
Butler KM et al.
Pediatric Neurology, 2017
Immediate suppression of seizure clusters by corticosteroids in PCDH19 female epilepsy.
Higurashi N et al.
Seizure, 2015
Cognitive development in females with PCDH19 gene-related epilepsy.
Cappelletti S et al.
Epilepsy & Behavior : E&b, 2015
Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy.
Marini C et al.
Epilepsia, 2012
Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.
Specchio N et al.
Epilepsia, 2011
Protocadherin 19 mutations in girls with infantile-onset epilepsy.
Marini C et al.
Neurology, 2010
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