A5028371124- Epilepsy research and treatment
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Neuroscience and Neuropharmacology Research
- Pediatric Pain Management Techniques
- Nausea and vomiting management
- Anesthesia and Pain Management
- Ion channel regulation and function
University of Glasgow
2019-2024
Royal Hospital for Children
2019-2024
Clínica Alemana
2022
Universidad del Desarrollo
2022
Golden Jubilee National Hospital
2019
Abstract Objective Voltage‐gated sodium channels (SCNs) share similar amino acid sequence, structure, and function. Genetic variants in the four human brain‐expressed SCN genes SCN1A/2A/3A/8A have been associated with heterogeneous epilepsy phenotypes neurodevelopmental disorders. To better understand biology of seizure susceptibility ‐related epilepsies, our aim was to determine similarities differences between channel disorders, allowing us develop a broader perspective on precision...
Pathogenic variants in the neuronal sodium channel α1 subunit gene (SCN1A) are most frequent monogenic cause of epilepsy. Phenotypes comprise a wide clinical spectrum, including severe childhood epilepsy; Dravet syndrome, characterized by drug-resistant seizures, intellectual disability, and high mortality; milder genetic epilepsy with febrile seizures plus (GEFS+), normal cognition. Early recognition child's risk for developing syndrome vs GEFS+ is key implementing disease-modifying...
Abstract Objective SCN1A variants are associated with epilepsy syndromes ranging from mild genetic febrile seizures plus (GEFS+) to severe Dravet syndrome (DS). Many de novo, making early phenotype prediction difficult, and genotype–phenotype associations remain poorly understood. Methods We assessed data a retrospective cohort of 1018 individuals SCN1A‐ related epilepsies. explored relationships between variant characteristics (position, in silico scores: Combined Annotation Dependent...