✦ LIBER ✦

De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin

✍ Scribed by Heron, S. E.; Scheffer, I. E.; Iona, X.; Zuberi, S. M.; Birch, R.; McMahon, J. M.; Bruce, C. M.; Berkovic, S. F.; Mulley, J. C.

Book ID: 119973171
Publisher: BMJ Publishing Group
Year: 2009
Tongue: English
Weight: 88 KB
Volume: 47
Category: Article
ISSN: 0022-2593
DOI: 10.1136/jmg.2008.065912

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Progressive neurocognitive decline in tw

Progressive neurocognitive decline in two children with Dravet syndrome, de novo SCN1A truncations and different epileptic phenotypes

✍ Daria Riva; Chiara Vago; Chiara Pantaleoni; Sara Bulgheroni; Massimo Mantegazza; 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 198 KB 👁 2 views

De Novo Loss-of-Function Mutations in CH

De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

✍ Suls, Arvid; Jaehn, Johanna A.; Kecskés, Angela; Weber, Yvonne; Weckhuysen, Sara 📂 Article 📅 2013 🏛 American Society of Human Genetics 🌐 English ⚖ 564 KB