Associated Papers
Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies.
Barcia G et al.
Epilepsia Open, 2025
40347095 (PubMed )
Supplement: EPI4-10-1065-s001.xlsx › Targeted_NGS
Clinical exome sequencing-Mistakes and caveats.
Corominas J et al.
Human Mutation, 2022
A mutation update for the PCDH19 gene causing early-onset epilepsy in females with an unusual expression pattern.
Niazi R et al.
Human Mutation, 2019
Structural determinants of adhesion by Protocadherin-19 and implications for its role in epilepsy.
Cooper SR et al.
Elife, 2016
27787195 (PubMed )
Supplement: elife-18529-fig1-data1.xlsx › Sheet1
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
Trump N et al.
Journal of Medical Genetics, 2016
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