𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A case of SUDEP in a patient with Dravet syndrome with SCN1A mutation

✍ Scribed by François Le Gal; Christian M. Korff; Christine Monso-Hinard; Michael T. Mund; Michael Morris; Alain Malafosse; Thomas Schmitt-Mechelke

Book ID
109112815
Publisher
Wiley (Blackwell Publishing)
Year
2010
Tongue
English
Weight
283 KB
Volume
51
Category
Article
ISSN
0013-9580

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Deletions of SCN1A 5′ genomic region wit
Deletions of SCN1A 5′ genomic region with promoter activity in Dravet syndrome
✍ Tojo Nakayama; Ikuo Ogiwara; Koichi Ito; Makoto Kaneda; Emi Mazaki; Hitoshi Osak 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 421 KB

Mutations involving the voltage-gated sodium channel a I gene SCN1A are major genetic causes of childhood epileptic disorders, as typified by Dravet syndrome. Here we investigated the upstream regions of the SCN1A 5 0 noncoding exons and found two major regions with promoter activity. These two majo