Triplication of the PCDH19 Gene as a Novel Disease Mechanism Leading to Epileptic Encephalopathy Resembling Loss-of-Function Pathogenic Variants
Here, we propose the dose gain of <i>PCDH19</i> as a new pathogenic mechanism that results in a phenotype similar to that found in patients with loss-of-function variants in <i>PCDH19</i>, when present in a heterozygous state.
Authors
- Carmen Orellana (ORCID: https://orcid.org/0000-0003-4271-5859)
- Silvestre Oltra (ORCID: https://orcid.org/0000-0001-6863-4382)
- Patricia Smeyers
- Sandra Monfort (ORCID: https://orcid.org/0000-0003-2016-1410)
- Alba Gabaldón-Albero (ORCID: https://orcid.org/0009-0004-9797-5994)
- Mónica Rosello (ORCID: https://orcid.org/0000-0001-9234-2953)
- S Hernández-Muela
- Francisco Martı́nez (ORCID: https://orcid.org/0000-0002-0589-2584)
Institutions
- Hospital Universitari i Politècnic La Fe (ES)
Publication Details
- Journal
- Genes
- Published
- 2024-10-12
- DOI
- https://doi.org/10.3390/genes15101312
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- European Commission
- Instituto de Salud Carlos III