S Cestèle, P Scalmani, R Rusconi… - Journal of …, 2008 - Soc Neuroscience
Familial hemiplegic migraine (FHM) is an autosomal dominant inherited subtype of severe
migraine with aura. Mutations causing FHM (type 3) have been identified in SCN1A, the
gene encoding neuronal voltage-gated Na v 1.1 Na+ channel α subunit, but functional
studies have been done using the cardiac Na v 1.5 isoform, and the observed effects were
similar to those of some epileptogenic mutations. We studied the FHM mutation Q1489K by
transfecting tsA-201 cells and cultured neurons with human Na v 1.1. We show that the …