Associated Papers
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.
Kaschta D et al.
Genome Medicine, 2025
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
Multiomic analysis implicates nuclear hormone receptor signalling in clustering epilepsy.
de Nys R et al.
Translational Psychiatry, 2024
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
A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy.
Kolc KL et al.
Translational Psychiatry, 2020
PCDH19 Pathogenic Variants in Males: Expanding the Phenotypic Spectrum.
Kolc KL et al.
Advances in Experimental Medicine and Biology, 2020
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
Protocadherin 19 (PCDH19) interacts with paraspeckle protein NONO to co-regulate gene expression with estrogen receptor alpha (ERα).
Pham DH et al.
Human Molecular Genetics, 2017
Structural determinants of adhesion by Protocadherin-19 and implications for its role in epilepsy.
Cooper SR et al.
Elife, 2016
Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.
Tan C et al.
Human Molecular Genetics, 2015
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
PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder.
Depienne C et al.
Human Mutation, 2012
Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.
Specchio N et al.
Epilepsia, 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
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.
Dibbens LM et al.
Nature Genetics, 2008