A common <i><scp>SCN</scp>1<scp>A</scp></i> splice‐site polymorphism modifies the effect of carbamazepine on cortical excitability—A pharmacogenetic transcranial magnetic stimulation study

Abstract excerpt

OBJECTIVE: SCN1A encodes the alpha subunit of the voltage-gated sodium channel and plays a crucial role in several epilepsy syndromes. The common SCN1A splice-site polymorphism rs3812718 (IVS5N+5 G>A) might contribute to the pathophysiology underlying genetic generalized epilepsies and is associated with electrophysiologic properties of the channel and the effect of sodium-channel blocking antiepileptic drugs. We...

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