𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene

✍ Scribed by Renzo Guerrini; Elena Cellini; Davide Mei; Tiziana Metitieri; Cristina Petrelli; Daniela Pucatti; Carla Marini; Nelia Zamponi


Book ID
109112907
Publisher
Wiley (Blackwell Publishing)
Year
2010
Tongue
English
Weight
138 KB
Volume
51
Category
Article
ISSN
0013-9580

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


The novel p.L1649Q mutation in the SCN1A
✍ Kaate R.J. Vanmolkot; Elena Babini; Boukje de Vries; Anine H. Stam; Tobias Freil πŸ“‚ Article πŸ“… 2007 πŸ› John Wiley and Sons 🌐 English βš– 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