Associated Papers
Whole Exome Sequencing Based Diagnostics in Complex Childhood Epilepsy Syndromes-A Cohort Study on Clinical Utility.
Fasaludeen A et al.
Clinical Genetics, 2026
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
PCDH19-related epilepsy is associated with a broad neurodevelopmental spectrum.
Smith L et al.
Epilepsia, 2018
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
28864458 (PubMed )
Supplement: supp_gr.226589.117_Supplemental_Data_S1.xlsx › Data_S1
Structural determinants of adhesion by Protocadherin-19 and implications for its role in epilepsy.
Cooper SR et al.
Elife, 2016
Immediate suppression of seizure clusters by corticosteroids in PCDH19 female epilepsy.
Higurashi N et al.
Seizure, 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
PCDH19-related female-limited epilepsy: further details regarding early clinical features and therapeutic efficacy.
Higurashi N et al.
Epilepsy Research, 2013
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