Associated Papers
Diagnosis and follow-up of a PCDH19 epilepsy patient.
Chen Y et al.
Psychiatric Genetics, 2026
Genotypic spectrum in 1215 patients with Dravet syndrome or Dravet syndrome-like phenotype.
Tian X et al.
Pediatric Research, 2026
Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.
Henry OJ et al.
Epilepsia, 2025
Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies.
Barcia G et al.
Epilepsia Open, 2025
Phenotypic and genotypic characteristics of children with PCDH19 clustering epilepsy in China.
Feng W et al.
Seizure, 2024
Genetic variants and phenotype analysis in a five-generation Chinese pedigree with PCDH19 female-limited epilepsy.
Zhou W et al.
Frontiers in Neurology, 2023
Do All Roads Lead to Rome? Genes Causing Dravet Syndrome and Dravet Syndrome-Like Phenotypes.
Ding J et al.
Frontiers in Neurology, 2022
Genetic and Phenotype Analysis of a Chinese Cohort of Infants and Children With Epilepsy.
Chuan Z et al.
Frontiers in Genetics, 2022
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
Application of Trio-Whole Exome Sequencing in Genetic Diagnosis and Therapy in Chinese Children With Epilepsy.
Jiang T et al.
Frontiers in Molecular Neuroscience, 2021
Two novel PCDH19 mutations in Russian patients with epilepsy with intellectual disability limited to females: a case report.
Kozina AA et al.
Bmc Medical Genetics, 2020
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
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population.
Liu A et al.
Clinical Genetics, 2017
Structural determinants of adhesion by Protocadherin-19 and implications for its role in epilepsy.
Cooper SR et al.
Elife, 2016
Epilepsy and mental retardation restricted to females: X-linked epileptic infantile encephalopathy of unusual inheritance.
Duszyc K et al.
Journal of Applied Genetics, 2015
Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings.
Gaily E et al.
Epilepsia, 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
Identification of PCDH19 Gene Mutations/Deletions in Patients with Early Onset Epilepsy.
Gursoy S et al.
Annals of Indian Academy of Neurology, 0