Associated Papers
Targeted gene panel testing in pediatric epilepsy: Diagnostic outcomes and expanding genetic insights.
Sanri A et al.
Brain & Development, 2026
Multicenter retrospective study of patients with PCDH19-related epilepsy: The first Hungarian cohort.
Kovacs M et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2024
Phenotypic and genotypic characteristics of children with PCDH19 clustering epilepsy in China.
Feng W et al.
Seizure, 2024
Proteomic analysis of the developing mammalian brain links PCDH19 to the Wnt/β-catenin signalling pathway.
de Nys R et al.
Molecular Psychiatry, 2024
Common genes and recurrent causative variants in 957 Asian patients with pediatric epilepsy.
Kim SH et al.
Epilepsia, 2024
Morphometric network-based abnormalities correlate with psychiatric comorbidities and gene expression in PCDH19-related developmental and epileptic encephalopathy.
Lenge M et al.
Translational Psychiatry, 2024
Whole Exome Sequencing as a First-Line Molecular Genetic Test in Developmental and Epileptic Encephalopathies.
Vetri L et al.
International Journal of Molecular Sciences, 2024
Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms.
Veltra D et al.
Expert Review of Molecular Diagnostics, 2023
Genetic variants and phenotype analysis in a five-generation Chinese pedigree with PCDH19 female-limited epilepsy.
Zhou W et al.
Frontiers in Neurology, 2023
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D et al.
Jama Neurology, 2022
Clinical and genetic spectrum of 355 Chinese children with epilepsy: a trio-sequencing-based study.
Duan J et al.
Brain : a Journal of Neurology, 2022
Do All Roads Lead to Rome? Genes Causing Dravet Syndrome and Dravet Syndrome-Like Phenotypes.
Ding J et al.
Frontiers in Neurology, 2022
Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants.
Pham DH et al.
Human Mutation, 2021
Comparative characterization of PCDH19 missense and truncating variants in PCDH19-related epilepsy.
Shibata M et al.
Journal of Human Genetics, 2021
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy.
Kolc KL et al.
Translational Psychiatry, 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
Mosaicism and incomplete penetrance of PCDH19 mutations.
Liu A et al.
Journal of Medical Genetics, 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
Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 Epilepsy.
Pederick DT et al.
Neuron, 2018
Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case report.
Kurian M et al.
Developmental Medicine and Child Neurology, 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
PCDH19-related epilepsy in two mosaic male patients.
Terracciano A et al.
Epilepsia, 2016
[A patient with an early diagnosis of PCDH19-related epilepsy].
Hoshina M et al.
No to Hattatsu = Brain and Development, 2015
Immediate suppression of seizure clusters by corticosteroids in PCDH19 female epilepsy.
Higurashi N et al.
Seizure, 2015
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
Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMR.
Terracciano A et al.
Neurogenetics, 2012
PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder.
Depienne C et al.
Human Mutation, 2012
PCDH19 mutation in Japanese females with epilepsy.
Higurashi N et al.
Epilepsy Research, 2012
Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.
Kwong AK et al.
Plos One, 2012
Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.
Specchio N et al.
Epilepsia, 2011
Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations.
Dibbens LM et al.
Neurology, 2011
Protocadherin 19 mutations in girls with infantile-onset epilepsy.
Marini C et al.
Neurology, 2010
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families.
Hynes K et al.
Journal of Medical Genetics, 2010
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.
Depienne C et al.
Plos Genetics, 2009