Associated Papers
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
A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy.
Kolc KL et al.
Translational Psychiatry, 2020
32366910 (PubMed )
Supplement: 41398_2020_803_MOESM6_ESM.pdf
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
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
Epilepsy and mental retardation restricted to females: X-linked epileptic infantile encephalopathy of unusual inheritance.
Duszyc K et al.
Journal of Applied Genetics, 2015
Cognitive development in females with PCDH19 gene-related epilepsy.
Cappelletti S et al.
Epilepsy & Behavior : E&b, 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
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
Acute-onset epilepsy triggered by fever mimicking FIRES (febrile infection-related epilepsy syndrome): the role of protocadherin 19 (PCDH19) gene mutation.
Specchio N et al.
Epilepsia, 2011
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
Select a paper to view details