• <em>PCDH19</em> in Males: Are Hemizygous Variants Linked to Autism?
• 50 Years Ago in TheJournalofPediatrics: Unique X-Linked Mutation Associated with Female-Specific Epilepsy and Intellectual Disability
• A Male Child with Infantile Epilepsy due to a Mosaic Missense Variant of PCDH19
• A missense variant of SMC1A causes periodic pharmaco-resistant cluster seizures similar to PCDH19-related epilepsy
• A mutation update for the PCDH19 gene causing early-onset epilepsy in females with an unusual expression pattern
• A novel PCDH19 missense mutation, c.812G&gt;A (p.Gly271Asp), identified using whole-exome sequencing in a Chinese family with epilepsy female restricted mental retardation syndrome
• 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
• A rat model of a focal mosaic expression of PCDH19 replicates human brain developmental abnormalities and behaviours
• A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy
• A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity
• Abnormal cell sorting and altered early neurogenesis in a human cortical organoid model of Protocadherin-19 clustering epilepsy
• Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 Epilepsy
• Adjuvant Treatment for Protocadherin 19 (PCDH19) Syndrome
• Age-related "Sleep/nocturnal" tonic and tonic clonic seizure clusters are underdiagnosed in patients with Dravet Syndrome
• Autism-like behaviors in male mice with a Pcdh19 deletion
• Behavioral and neuropsychological profile of a male patient with mosaic PCDH19 mutation
• Cadherins and the pathogenesis of epilepsy
• Case report of a novel PCDH19 frameshift mutation in a girl with epilepsy and mental retardation limited to females
• Characterization of seizure susceptibility in Pcdh19 mice
• Child Neurology: Initial Presentation of <em>PCDH19</em>-Related Epilepsy With New-Onset Refractory Status Epilepticus and Treatment With Anakinra
• Child Neurology: Initial Presentation of PCDH19-Related Epilepsy With New-Onset Refractory Status Epilepticus and Treatment With Anakinra
• Chinese cases of early infantile epileptic encephalopathy: a novel mutation in the PCDH19 gene was proved in a mosaic male- case report
• Clinical characteristics of PCDH19-female limited epilepsy
• Clinical features and genetics analysis of a Chinese pedigree affected with developmental and epileptic encephalopathy 9
• Clinical next generation sequencing in developmental and epileptic encephalopathies: Diagnostic relevance of data re-analysis and variants re-interpretation
• Common genes and recurrent causative variants in 957 Asian patients with pediatric epilepsy
• Comorbidities of Rare Epilepsies: Results from the Rare Epilepsy Network
• Comparative characterization of PCDH19 missense and truncating variants in PCDH19-related epilepsy
• Copy number variation analysis in 83 children with early-onset developmental and epileptic encephalopathy after targeted resequencing of a 109-epilepsy gene panel
• Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study
• Determining the best candidates for next-generation sequencing-based gene panel for evaluation of early-onset epilepsy
• Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genes
• Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel
• Disentangling the paradox of the PCDH19 clustering epilepsy, a disorder of cellular mosaics
• Disrupted Excitatory Synaptic Contacts and Altered Neuronal Network Activity Underpins the Neurological Phenotype in PCDH19-Clustering Epilepsy (PCDH19-CE)
• Dravet syndrome in South African infants: Tools for an early diagnosis
• Early and long-term electroclinical features of patients with epilepsy and PCDH19 mutation
• Early-Life Epilepsies and the Emerging Role of Genetic Testing
• Effect of PCDH19 missense mutations on cell-to-cell proximity and neuronal development under heterotypic conditions
• Enteral Ketamine for Status Epilepticus in Children with Epilepsy
• Epilepsy surgery in PCDH 19 related developmental and epileptic encephalopathy: A case report
• Exome sequencing of sporadic childhood-onset schizophrenia suggests the contribution of X-linked genes in males
• Expanding the genetic and clinical characteristics of Protocadherin 19 gene mutations
• Female-specific synaptic dysfunction and cognitive impairment in a mouse model of <em>PCDH19</em> disorder
• Female-specific synaptic dysfunction and cognitive impairment in a mouse model of PCDH19 disorder
• Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case report
• Genetic Diagnosis of Dravet Syndrome Using Next Generation Sequencing-Based Epilepsy Gene Panel Testing
• Genetic variants and phenotype analysis in a five-generation Chinese pedigree with <em>PCDH19</em> female-limited epilepsy
• Genetic variants and phenotype analysis in a five-generation Chinese pedigree with PCDH19 female-limited epilepsy
• Genetics and clinical correlation of Dravet syndrome and its mimics - experience of a tertiary center in Taiwan
• Genotype and phenotype analysis using an epilepsy-associated gene panel in Chinese pediatric epilepsy patients
• Identification of <em>PCDH19</em> Gene Mutations/Deletions in Patients with Early Onset Epilepsy
• Identification of PCDH19 Gene Mutations/Deletions in Patients with Early Onset Epilepsy
• Investigation of patients with childhood epilepsy in single center: Comprehensive genetic testing experience
• Levetiracetam efficacy in PCDH19 Girls Clustering Epilepsy
• Loss of X-linked Protocadherin-19 differentially affects the behavior of heterozygous female and hemizygous male mice
• Modeling PCDH19 clustering epilepsy by Neurogenin 2 induction of patient-derived induced pluripotent stem cells
• Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes
• Mosaic and non-mosaic protocadherin 19 mutation leads to neuronal hyperexcitability in zebrafish
• Mosaicism and incomplete penetrance of <em>PCDH19</em> mutations
• Mosaicism and incomplete penetrance of PCDH19 mutations
• Mosaicism-independent mechanisms contribute to Pcdh19-related epilepsy and repetitive behaviors in Xenopus
• Multicenter retrospective study of patients with PCDH19-related epilepsy: The first Hungarian cohort
• NGS-Based Identification of Two Novel PCDH19 Mutations in Female Patients with Early-Onset Epilepsy
• Novel and de novo mutation of PCDH19 in Girls Clustering Epilepsy
• Novel and de novo mutations in pediatric refractory epilepsy
• Pathogenic variant in the PCDH19 gene in a patient with epilepsy and cognitive disability
• PCDH19 gene mutations lead to epilepsy with mental retardation limited to females in 2 cases and literature review
• PCDH19 in Males: Are Hemizygous Variants Linked to Autism?
• PCDH19 Pathogenic Variants in Males: Expanding the Phenotypic Spectrum
• PCDH19 regulation of neural progenitor cell differentiation suggests asynchrony of neurogenesis as a mechanism contributing to PCDH19 Girls Clustering Epilepsy
• PCDH19-clustering epilepsy, pathophysiology and clinical significance
• PCDH19-related epilepsy in a male with Klinefelter syndrome: Additional evidence supporting PCDH19 cellular interference disease mechanism
• PCDH19-Related Epilepsy in Early Onset of Chinese Male Patient: Case Report and Literature Review
• PCDH19-related epilepsy is associated with a broad neurodevelopmental spectrum
• PCDH19-Related Epilepsy Syndrome: A Comprehensive Clinical Review
• Perturbation of Cortical Excitability in a Conditional Model of PCDH19 Disorder
• Phase 2, placebo-controlled clinical study of oral ganaxolone in PCDH19-clustering epilepsy
• Phenotypic and genotypic characteristics of children with PCDH19 clustering epilepsy in China
• Population-based study of rare epilepsy incidence in a US urban population
• Prenatal diagnosis of developmental and epileptic encephalopathy 9 with a 10.05-Mb microdeletion at Xq21.31q22.1 inherited from mother: A case report and literature review
• Proximity-dependent Proteomics Reveals Extensive Interactions of Protocadherin-19 with Regulators of Rho GTPases and the Microtubule Cytoskeleton
• Quantitative MRI-Based Analysis Identifies Developmental Limbic Abnormalities in PCDH19 Encephalopathy
• Schizophrenia is a later-onset feature of PCDH19 Girls Clustering Epilepsy
• Seizure course of PCDH19 clustering epilepsy in female children: A multicentre cohort study in China
• Somatic variants in diverse genes leads to a spectrum of focal cortical malformations
• The Broad Clinical Spectrum of Epilepsies Associated With Protocadherin 19 Gene Mutation
• The clinical and genetic spectrum in infants with (an) unprovoked cluster(s) of focal seizures
• The female epilepsy protein PCDH19 is a new GABAAR-binding partner that regulates GABAergic transmission as well as migration and morphological maturation of hippocampal neurons
• The impact of developmental and epileptic encephalopathies on families: a qualitative study
• The role of PCDH19 in refractory status epilepticus
• The Role of Protocadherin 19 (PCDH19) in Neurodevelopment and in the Pathophysiology of Early Infantile Epileptic Encephalopathy-9 (EIEE9)
• Tiered analysis of whole-exome sequencing for epilepsy diagnosis
• Treatment of Low Cerebrospinal Fluid 5-Methyltetrahydrofolate With Leucovorin Improves Seizure Control and Development in PCDH19-Related Epilepsy
• Two novel PCDH19 mutations in Russian patients with epilepsy with intellectual disability limited to females: a case report
• Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy
• Whole-Genome Sequencing Among Kazakhstani Children with Early-Onset Epilepsy Revealed New Gene Variants and Phenotypic Variability
• X-chromosome inactivation and PCDH19-associated epileptic encephalopathy: A novel PCDH19 variant in a Chinese family
• X-Linked Epilepsies: A Narrative Review
• X-linked epileptic syndrome by protocadherin 19 mutation associated with leukoencephalopathy and posterior reversible tractopathy