Magnesium, epilepsy, and CNNM2 mutations

Electrolytes. Sodium, calcium, and magnesium – I usually tell my students that imbalances in these serum electrolytes may result in seizures, when levels fall under a critical threshold. Amongst these imbalances, hypomagnesemia, a reduction of the serum magnesium level below 0.7 mmol/L, is a very rare cause of seizures, particularly in a pediatric population. However, there are genetic conditions that result in reduced magnesium levels and lead to neurological complications. In a recent paper in PLOS Genetics, the phenotype of CNNM2 mutation carriers is investigated – and magnesium is only the beginning of the story. Continue reading

Dravet Syndrome, zebrafish and clemizole

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