Dravet's syndrome

Dravet's syndrome is a rare, severe, genetic epileptic encephalopathy. Most cases of Dravet's syndrome are caused by a mutation in the SCN1A gene. This gene codes for a sodium channel, voltage gated type 1 alpha subunit. In recent studies, Dravet's syndrome has been attributed to mutations in GABAergic neurons; hence, GABAergic neurotransmission is compromised. GABA is a nuerotransmitter with vast inhibitory functions. As such, seizurelike locomotor behavior and epileptiform brain activity are signs of Dravet's syndrome. In humans, the presence of one mutant allele is sufficient enough for the expression of the mutant phenotype but in zebrafish, the model organism for studying neural networks and disorders, the mutant phenotype is only observed in larvae that have two copies of the mutant allele.