Sodium channelopathies and epilepsy (Part 1)
Keywords:
sodium canalopathy, SCN1A, Dravet syndrome, GEFSAbstract
Pathological variants in the genes encoding the alpha subunits of sodium channels cause a wide variety of epileptic syndromes - from benign epilepsies to severe developmental and epileptic encephalopathies. The role of sodium channels in epilepsy is explained by their involvement in membrane excitability, in the initiation and propagation of action potential. Mutations in SCN1A gene are the most common. Their clinical manifestation consists mainly of epileptic syndromes with different severity, but also of non-epileptic diseases such as hemiplegic migraine and autism spectrum disorders. Dravet's syndrome is a prototype of developmental and epileptic encephalopathies and in 80% of the cases a mutation in SCN1A is confirmed. The disease is characterized by therapeutically resistant seizures, cognitive regression and behavioral changes.
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