SCN1A

SCN1A is a gene that encodes the alpha subunit of the sodium channel, type I, alpha subunit, which is a voltage-gated sodium ion channel. Mutations in this gene have been associated with several forms of epilepsy.

Function

The SCN1A gene provides instructions for making one part (the alpha subunit) of a sodium channel. Sodium channels transport positively charged sodium atoms (ions) into cells and play a key role in a cell's ability to generate and transmit electrical signals.

Clinical significance

Mutations in the SCN1A gene are associated with a variety of seizure disorders, most notably Dravet syndrome, but also Generalized epilepsy with febrile seizures plus and others. The types of mutations that occur in this gene can affect the severity of the condition.

Genetics

The SCN1A gene is located on the short (p) arm of chromosome 2 at position 24.3, from base pair 165,605,425 to base pair 165,674,437.

See also

• Sodium channel
• Epilepsy
• Dravet syndrome
• Generalized epilepsy with febrile seizures plus

External links

• SCN1A at National Center for Biotechnology Information
• SCN1A at Genetics Home Reference

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