Is Precision Therapy in Infantile-Onset Epileptic Encephalopathies Still Too Far to Call Upon?
Epileptic and developmental encephalopathies (EDEs) are a group of severe, genetically various neurological conditions characterized by early-onset seizures and developmental impairments. Recent advances in molecular genetics and diagnostic tools have led to the development of precision therapies, a...
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MDPI AG
2025-02-01
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| author | Raffaele Falsaperla Vincenzo Sortino Piero Pavone |
| author_facet | Raffaele Falsaperla Vincenzo Sortino Piero Pavone |
| author_sort | Raffaele Falsaperla |
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| description | Epileptic and developmental encephalopathies (EDEs) are a group of severe, genetically various neurological conditions characterized by early-onset seizures and developmental impairments. Recent advances in molecular genetics and diagnostic tools have led to the development of precision therapies, aiming to address the deep causes of these disorders. Examples, such as pyridoxine for pyridoxine-dependent epilepsy and the ketogenic diet for GLUT1 deficiency syndrome illustrate the potential of presumed tailored treatments. However, challenges persist, as current therapies often fail to fully mitigate neurodevelopmental impairments. Moreover, traditional phenotype-based management strategies, while effective for seizure control, do not address the root causes of these disorders, underscoring the limitations of existing approaches. This article explores the evolving landscape of precision medicine in EDEs, emphasizing the importance of genetic insights in therapy design and the need for a multidisciplinary approach. It also highlights the barriers to widespread implementation, including diagnostic delays, accessibility, and a lack of robust clinical evidence. To fully realize the potential of precision therapies, comprehensive genetic integration, innovation in treatment, and global collaboration are essential. The future of EDE management lies in therapies that not only control symptoms but also correct genetic and molecular defects, offering a more effective, individualized approach to care. |
| format | Article |
| id | doaj-art-3dfd286dbe434b80938a451a9eb29b2c |
| institution | OA Journals |
| issn | 2076-3417 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | MDPI AG |
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| series | Applied Sciences |
| spelling | doaj-art-3dfd286dbe434b80938a451a9eb29b2c2025-08-20T02:05:23ZengMDPI AGApplied Sciences2076-34172025-02-01155237210.3390/app15052372Is Precision Therapy in Infantile-Onset Epileptic Encephalopathies Still Too Far to Call Upon?Raffaele Falsaperla0Vincenzo Sortino1Piero Pavone2Department of Medical Science-Pediatrics, University of Ferrara, 44124 Ferrara, ItalyUnit of Clinical Pediatrics, AOU “Policlinico-San Marco”, PO "San Marco", University of Catania, 95123 Catania, ItalyUnit of Clinical Pediatrics, AOU “Policlinico”, PO “G. Rodolico”, University of Catania, 95123 Catania, ItalyEpileptic and developmental encephalopathies (EDEs) are a group of severe, genetically various neurological conditions characterized by early-onset seizures and developmental impairments. Recent advances in molecular genetics and diagnostic tools have led to the development of precision therapies, aiming to address the deep causes of these disorders. Examples, such as pyridoxine for pyridoxine-dependent epilepsy and the ketogenic diet for GLUT1 deficiency syndrome illustrate the potential of presumed tailored treatments. However, challenges persist, as current therapies often fail to fully mitigate neurodevelopmental impairments. Moreover, traditional phenotype-based management strategies, while effective for seizure control, do not address the root causes of these disorders, underscoring the limitations of existing approaches. This article explores the evolving landscape of precision medicine in EDEs, emphasizing the importance of genetic insights in therapy design and the need for a multidisciplinary approach. It also highlights the barriers to widespread implementation, including diagnostic delays, accessibility, and a lack of robust clinical evidence. To fully realize the potential of precision therapies, comprehensive genetic integration, innovation in treatment, and global collaboration are essential. The future of EDE management lies in therapies that not only control symptoms but also correct genetic and molecular defects, offering a more effective, individualized approach to care.https://www.mdpi.com/2076-3417/15/5/2372epilepsyencephalopathiesprecisiontherapy |
| spellingShingle | Raffaele Falsaperla Vincenzo Sortino Piero Pavone Is Precision Therapy in Infantile-Onset Epileptic Encephalopathies Still Too Far to Call Upon? Applied Sciences epilepsy encephalopathies precision therapy |
| title | Is Precision Therapy in Infantile-Onset Epileptic Encephalopathies Still Too Far to Call Upon? |
| title_full | Is Precision Therapy in Infantile-Onset Epileptic Encephalopathies Still Too Far to Call Upon? |
| title_fullStr | Is Precision Therapy in Infantile-Onset Epileptic Encephalopathies Still Too Far to Call Upon? |
| title_full_unstemmed | Is Precision Therapy in Infantile-Onset Epileptic Encephalopathies Still Too Far to Call Upon? |
| title_short | Is Precision Therapy in Infantile-Onset Epileptic Encephalopathies Still Too Far to Call Upon? |
| title_sort | is precision therapy in infantile onset epileptic encephalopathies still too far to call upon |
| topic | epilepsy encephalopathies precision therapy |
| url | https://www.mdpi.com/2076-3417/15/5/2372 |
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