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Author Spotlight: Advancing Pediatric Epilepsy Surgery in Children Through Novel Biomarkers and Enhanced Localization
Published on: September 20, 2024
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Epilepsies.
Amy McTague1, Ingrid E Scheffer2, Dimitri M Kullmann3
1Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, United Kingdom; Department of Neurology, Great Ormond Street Hospital for Children, London, United Kingdom.
Handbook of Clinical Neurology
|August 22, 2024
Summary
Genetic diagnosis reveals epilepsy causes in ion channel genes. Early genetic testing for channelopathies is crucial for diagnosis, management, and developing targeted gene therapies.
Area of Science:
- Neurogenetics
- Epileptology
- Molecular Medicine
Background:
- Genetic diagnostics have identified causative variants in ion and ligand-gated channel genes for many epilepsies.
- Channelopathies represent a significant group of genetic epilepsy disorders with diverse clinical presentations.
Purpose of the Study:
- To describe clinical presentations of epilepsy associated with channelopathies.
- To highlight the importance of recognizing channelopathy phenotypes for early genetic testing and management.
- To discuss the implications for gene therapy development.
Main Methods:
- Review of clinical presentations of epilepsy linked to channelopathies.
- Discussion of specific channelopathies, including SCN1A-Dravet syndrome.
- Exploration of clinical scenarios suggestive of channelopathy.
Main Results:
- Identification of pathogenic variants in channel genes explains numerous epilepsies.
- Channelopathies manifest in classic syndromes and emerging gene-specific phenotypes.
- Phenotypic spectrums of channelopathies are expanding, impacting diagnosis and therapy.
Conclusions:
- Early recognition of epilepsy phenotypes associated with channelopathies is essential for timely genetic testing.
- Understanding channelopathies aids in developing targeted gene therapies.
- Findings have implications for patient management, prognosis, and genetic counseling.
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