Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene
Author:
Publisher
Wiley
Subject
Neurology (clinical),Neurology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1528-1167.2010.02790.x/fullpdf
Reference12 articles.
1. Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients;Depienne;J Med Genet,2009
2. Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome;Depienne;J Med Genet,2010
3. Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy;Gennaro;Biochem Biophys Res Commun,2006
4. An inherited nonsense R1645X mutation in neuronal sodium channel alpha1-subunit gene in a Turkish patient with severe myoclonic epilepsy of infancy;Gökben;Neuropediatrics,2009
5. Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities;Marini;Epilepsia,2007
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