Varaico: Literature-Extracted Genetic Variants

Gene:PCDH19
Variant:p.V497_R498insA
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PCDH19

NM_001184880.2:p.V497_R498insA

Associated Papers

Genotypic spectrum in 1215 patients with Dravet syndrome or Dravet syndrome-like phenotype.

Tian X et al.

Pediatric Research, 2026

Developmental and epileptic encephalopathy: Personal utility of a genetic diagnosis for families.

Jeffrey JS et al.

Epilepsia Open, 2021

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

Mosaicism and incomplete penetrance of PCDH19 mutations.

Liu A et al.

Journal of Medical Genetics, 2019

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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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."