P1-216 Cotton wool plaques associated with a novel mutation in the presenilin 1 gene (V261I): immunohistological, genetic and biochemicals studies

The novel p.L1649Q mutation in the SCN1A

The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies

✍ Kaate R.J. Vanmolkot; Elena Babini; Boukje de Vries; Anine H. Stam; Tobias Freil 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 492 KB

Familial hemiplegic migraine (FHM) is a severe subtype of migraine with hemiparesis during attacks. We scanned 10 families with FHM without mutations in the CACNA1A (FHM1) and ATP1A2 (FHM2) genes. We identified the novel p.L1649Q mutation (c.4946T>A) in Na(v)1.1 sodium channel gene SCN1A (FHM3) in a