Associated Papers
Phenotypic and genotypic characteristics of children with PCDH19 clustering epilepsy in China.
Feng W et al.
Seizure, 2024
High Diagnostic Yield and Clinical Utility of Next-Generation Sequencing in Children with Epilepsy and Neurodevelopmental Delays: A Retrospective Study.
Charouf D et al.
International Journal of Molecular Sciences, 2024
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy.
Gozzelino L et al.
Brain : a Journal of Neurology, 2022
The Benefit of Multigene Panel Testing for the Diagnosis and Management of the Genetic Epilepsies.
Leduc-Pessah H et al.
Genes, 2022
PCDH19-related epilepsy in mosaic males: The phenotypic implication of genotype and variant allele frequency.
Chen Y et al.
Frontiers in Neurology, 2022
Comparative characterization of PCDH19 missense and truncating variants in PCDH19-related epilepsy.
Shibata M et al.
Journal of Human Genetics, 2021
Somatic Evolution in Non-neoplastic IBD-Affected Colon.
Olafsson S et al.
Cell, 2020
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
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
Epilepsy and mental retardation restricted to females: X-linked epileptic infantile encephalopathy of unusual inheritance.
Duszyc K et al.
Journal of Applied Genetics, 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
A novel PCDH19 mutation inherited from an unaffected mother.
Dimova PS et al.
Pediatric Neurology, 2012
PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder.
Depienne C et al.
Human Mutation, 2012
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.
Depienne C et al.
Human Mutation, 2011