Varaico: Literature-Extracted Genetic Variants

Gene:PCDH19
Variant:p.D320fs
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PCDH19

NM_001184880.2:p.D320fs

Associated Papers

Morphometric network-based abnormalities correlate with psychiatric comorbidities and gene expression in PCDH19-related developmental and epileptic encephalopathy.

Lenge M et al.

Translational Psychiatry, 2024

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

Cognitive development in females with PCDH19 gene-related epilepsy.

Cappelletti S et al.

Epilepsy & Behavior : E&b, 2015

Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy.

Marini C et al.

Epilepsia, 2012

Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.

Specchio N et al.

Epilepsia, 2011

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."