Mutacija SCN1A gena – genski uzrok epilepsije

Voltage-gated sodium channels are involved in the excitability of neurons, and are critical for the initiation and propagation of action potentials in neurons. Mutation of the gene encoding α1 subunit of voltage-gated sodium channel, SCN1A gene (sodium channel, voltage gated, type I alpha subunit) is associated with several epileptic syndromes, ranging from relatively mild phenotype found in families with genetic epilepsy with febrile seizures plus (GEFS+) to severe myoclonic epilepsy of infancy (known as Dravet syndrome). Dravet syndrome is one of the most severe epileptic syndromes characterized by frequent seizures and severe cognitive impairement in previously normal child. Approximately 80 % of patients with Dravet syndrome carry an SCN1A mutation. This review presents recent scientific information on the syndrome as an example of genetic epilepsy caused by mutation of SCN1A gene. We present two patients with Dravet syndrome in whom the diagnoses were based on clinical features and genetic testing.