Precision Medicine: SCN8A Encephalopathy Treated with Sodium Channel Blockers
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Neurology (clinical),Pharmacology
Link
http://link.springer.com/content/pdf/10.1007/s13311-015-0403-5.pdf
Reference11 articles.
1. Veeramah KR, O’Brien JE, Meisler MH, et al. De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP. Am J Hum Genet 2012;90:502-510.
2. Larsen J, Carvill GL, Gardella E, et al. The phenotypic spectrum of SCN8A encephalopathy. Neurology 2015;84:480-489.
3. Wagnon JL, Meisler MH. Recurrent and non-recurrent mutations of SCN8A in epileptic encephalopathy. Front Neurol 2015;6:104.
4. Blanchard MG, Willemsen MH, Walker JB, et al. De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy. J Med Genet 2015;52:330-337.
5. Estacion M, O'Brien JE, Conravey A, et al. A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy. Neurobiol Dis 2014;69:117-123.
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