Associated Papers
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
33262389 (PubMed )
Supplement: 10038_2020_880_MOESM4_ESM.xlsx › Supplemental_Table_2
Developmental and epileptic encephalopathy: Personal utility of a genetic diagnosis for families.
Jeffrey JS et al.
Epilepsia Open, 2021
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_MOESM5_ESM.pdf
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