Associated Papers
Multiomic analysis implicates nuclear hormone receptor signalling in clustering epilepsy.
de Nys R et al.
Translational Psychiatry, 2024
38280856 (PubMed )
Supplement: 41398_2024_2783_MOESM2_ESM.xlsx › Sheet1
Comparative characterization of PCDH19 missense and truncating variants in PCDH19-related epilepsy.
Shibata M et al.
Journal of Human Genetics, 2021
33262389 (PubMed )
Supplement: 10038_2020_880_MOESM4_ESM.xlsx › Supplemental_Table_2
Schizophrenia is a later-onset feature of PCDH19 Girls Clustering Epilepsy.
Vlaskamp DRM et al.
Epilepsia, 2019
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
29892053 (PubMed )
Supplement: 41380_2018_66_MOESM1_ESM.xlsx › Review
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
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
Select a paper to view details