Associated Papers
Genotypic spectrum in 1215 patients with Dravet syndrome or Dravet syndrome-like phenotype.
Tian X et al.
Pediatric Research, 2026
Molecular Profiling of Polish Pediatric Patients with Epilepsy: A Single-Center Diagnostic Experience Using Next-Generation Sequencing.
Chałupczyńska B et al.
Genes, 2026
Genetic Landscape of Opsoclonus-Myoclonus-Ataxia Syndrome in Children.
Gorman MP et al.
Pediatric Neurology, 2025
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
Do All Roads Lead to Rome? Genes Causing Dravet Syndrome and Dravet Syndrome-Like Phenotypes.
Ding J et al.
Frontiers in Neurology, 2022
Comparative characterization of PCDH19 missense and truncating variants in PCDH19-related epilepsy.
Shibata M et al.
Journal of Human Genetics, 2021
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
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 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
Early and long-term electroclinical features of patients with epilepsy and PCDH19 mutation.
Chemaly N et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2018
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
Targeted next generation sequencing: the diagnostic value in early-onset epileptic encephalopathy.
Gokben S et al.
Acta Neurologica Belgica, 2017
The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population.
Liu A et al.
Clinical Genetics, 2017
PCDH19-related female-limited epilepsy: further details regarding early clinical features and therapeutic efficacy.
Higurashi N et al.
Epilepsy Research, 2013
Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders.
van Harssel JJ et al.
Neurogenetics, 2013
Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy.
Marini C et al.
Epilepsia, 2012
PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder.
Depienne C et al.
Human Mutation, 2012
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.
Depienne C et al.
Plos Genetics, 2009
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.
Dibbens LM et al.
Nature Genetics, 2008