Disease: PCDH19 Female Epilepsy
- <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>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
- 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
- Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases
- 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
- Levetiracetam efficacy in PCDH19 Girls Clustering Epilepsy
- Loss of X-linked Protocadherin-19 differentially affects the behavior of heterozygous female and hemizygous male mice
- Male patients affected by mosaic PCDH19 mutations: five new cases
- 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
- 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
- PCDH19-related epilepsy: a rare but recognisable clinical syndrome in females
- Perturbation of Cortical Excitability in a Conditional Model of PCDH19 Disorder
- Phase 2, placebo-controlled clinical study of oral ganaxolone in PCDH19-clustering epilepsy
- 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
- Protocadherin 19 (PCDH19) interacts with paraspeckle protein NONO to co-regulate gene expression with estrogen receptor alpha (ERalpha)
- 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
- Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy
- Reduced steroidogenesis in patients with PCDH19-female limited epilepsy
- 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 Mosaicism of PCDH19 in a male with early infantile epileptic encephalopathy and review of the literature
- Somatic variants in diverse genes leads to a spectrum of focal cortical malformations
- Structural determinants of adhesion by Protocadherin-19 and implications for its role in epilepsy
- 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 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