Towards new therapeutic strategies based on cannabinoids for Dravet syndrome
Dravet syndrome (DS) is a rare genetic epileptic encephalopathy affecting children which, in approximately 70-80% of patients, is caused by loss-of-function mutations in the Scn1a gene, which encodes the α1 subunit of the voltage-gated sodium channel (NaV1.1). Clinically, these patients present diff...
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| Tipo de recurso: | tesis doctoral |
| Fecha de publicación: | 2022 |
| País: | España |
| Institución: | Universidad Complutense de Madrid (UCM) |
| Repositorio: | Docta Complutense |
| Idioma: | inglés |
| OAI Identifier: | oai:docta.ucm.es:20.500.14352/3567 |
| Acceso en línea: | https://hdl.handle.net/20.500.14352/3567 |
| Access Level: | acceso abierto |
| Palabra clave: | 616.853(043.2) Epilepsy Epilepsia Neurociencias (Medicina) 2490 Neurociencias |
| Sumario: | Dravet syndrome (DS) is a rare genetic epileptic encephalopathy affecting children which, in approximately 70-80% of patients, is caused by loss-of-function mutations in the Scn1a gene, which encodes the α1 subunit of the voltage-gated sodium channel (NaV1.1). Clinically, these patients present different types of epileptic seizures, which are frequently accompanied by some comorbidities such as developmental delay, cognitive impairment, hyperactivity, autistic traits and a rate of premature mortality of around 20%. Therapeutic strategies typically involve a complex polytherapy, with antiepileptic drugs whose action mechanisms are focused on correcting hyperexcitability, i.e., the imbalance between excitation and inhibition occurring in epilepsy. Current treatment algorithms often lead to tolerance issues as well as adverse effects, and around 30% of patients remain refractory. Therefore, there is an urgent need for new and effective therapeutic approaches... |
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