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Confirming an expanded spectrum of SCN2A mutations: a case series.
- Source :
-
Epileptic disorders : international epilepsy journal with videotape [Epileptic Disord] 2014 Mar; Vol. 16 (1), pp. 13-8. - Publication Year :
- 2014
-
Abstract
- Mutations in sodium channel genes are highly associated with epilepsy. Mutation of SCN1A, the gene encoding the voltage gated sodium channel (VGSC) alpha subunit type 1 (Nav1.1), causes Dravet syndrome spectrum disorders. Mutations in SCN2A have been identified in patients with benign familial neonatal-infantile epilepsy (BFNIE), generalised epilepsy with febrile seizures plus (GEFS+), and a small number of reported cases of other infantile-onset severe intractable epilepsy. Here, we report three patients with infantile-onset severe intractable epilepsy found to have de novo mutations in SCN2A. While a causal role for these mutations cannot be directly established, these findings contribute to growing evidence that mutation of SCN2A is associated with a range of epilepsy phenotypes including severe infantile-onset epilepsy.
Details
- Language :
- English
- ISSN :
- 1294-9361
- Volume :
- 16
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Epileptic disorders : international epilepsy journal with videotape
- Publication Type :
- Academic Journal
- Accession number :
- 24659627
- Full Text :
- https://doi.org/10.1684/epd.2014.0641