Modeling disease. Animal models for genetic disease might help in discovering new treatment options, especially when a large number of drugs or compounds can be tested in this model. In a recent paper in Nature Communications, a zebrafish model for Dravet Syndrome is used for medium-throughput screening of compounds approved by the Foods and Drugs Administration (FDA). The authors identify a single compound that is capable of abolishing behavioral and electrographic seizures in SCN1A-deficient zebrafish. Continue reading
Tag Archives: sodium channels
Seizures beget seizures through splicing in flies
The dynamic genome. Up to 95% of human genes undergo a process called alternative splicing. For these genes, several exons are present, which can be used alternatively or can be omitted. Accordingly, a single pre-mRNA can result in a variety of different proteins with different properties. For key players such as voltage-dependent sodium channels, it is therefore interesting to know which role alternative splicing plays in epilepsy. However, the splicing landscape of human sodium channels is complicated and difficult to investigate. Therefore, a model system is required where simple questions can be asked. A recent study now reveals interesting findings related to sodium channel splicing and seizure in the fruit fly. Continue reading
