Triplication of the PCDH19 Gene as a Novel Disease Mechanism Leading to Epileptic Encephalopathy Resembling Loss-of-Function Pathogenic Variants
Abstract
:1. Introduction
2. Materials and Methods
3. Results
3.1. Case Reports
3.1.1. Patient 1
3.1.2. Patient 2
3.2. Genetic Studies
3.2.1. Patient 1
3.2.2. Patient 2
4. Discussion
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Gabaldón-Albero, A.; Smeyers, P.; Hernández-Muela, S.; Roselló, M.; Orellana, C.; Monfort, S.; Oltra, S.; Martínez, F. Triplication of the PCDH19 Gene as a Novel Disease Mechanism Leading to Epileptic Encephalopathy Resembling Loss-of-Function Pathogenic Variants. Genes 2024, 15, 1312. https://doi.org/10.3390/genes15101312
Gabaldón-Albero A, Smeyers P, Hernández-Muela S, Roselló M, Orellana C, Monfort S, Oltra S, Martínez F. Triplication of the PCDH19 Gene as a Novel Disease Mechanism Leading to Epileptic Encephalopathy Resembling Loss-of-Function Pathogenic Variants. Genes. 2024; 15(10):1312. https://doi.org/10.3390/genes15101312
Chicago/Turabian StyleGabaldón-Albero, Alba, Patricia Smeyers, Sara Hernández-Muela, Mónica Roselló, Carmen Orellana, Sandra Monfort, Silvestre Oltra, and Francisco Martínez. 2024. "Triplication of the PCDH19 Gene as a Novel Disease Mechanism Leading to Epileptic Encephalopathy Resembling Loss-of-Function Pathogenic Variants" Genes 15, no. 10: 1312. https://doi.org/10.3390/genes15101312
APA StyleGabaldón-Albero, A., Smeyers, P., Hernández-Muela, S., Roselló, M., Orellana, C., Monfort, S., Oltra, S., & Martínez, F. (2024). Triplication of the PCDH19 Gene as a Novel Disease Mechanism Leading to Epileptic Encephalopathy Resembling Loss-of-Function Pathogenic Variants. Genes, 15(10), 1312. https://doi.org/10.3390/genes15101312