SCNs
voltage-gated sodium channels
Definition: voltage-gated sodium channels.
The human sodium channel family (SCNs) includes seven neuronal channels that are essential for the initiation and propagation of action potentials in the CNS and PNS.
In view of their critical role in neuronal firing and their strong sequence conservation during evolution, it is not surprising that mutations in the sodium channel genes are not well tolerated, and are responsible for a growing spectrum of channelopathies.
Nearly 700 mutations of the SCN1A gene have been identified in patients with Dravet syndrome (SMEI), making this the most commonly mutated gene in human epilepsy.
A small number of mutations have been found in SCN2A, SCN3A and SCN9A, and studies in the mouse suggest that SCN8A may contribute to seizure disorders.
Interactions between genetic variants of SCN2A and KCNQ2 in the mouse, and variants of SCN1A and SCN9A in patients, provide models of potential genetic modifier effects in the more common human polygenic epilepsies.
Members:
SCN1s | SCN2s | SCN3s | SCN4s | SCN5s | SCN6s | SCN7s | SCN8s | SCN9s | SCN10s | SCN11s |
References
The sodium channel gene family: epilepsy mutations, gene interactions and modifier effects. Meisler MH, O’Brien JE, Sharkey LM. J Physiol. 2010 Mar 29. PMID: #20351042#