Epileptic Disorders
MENUConfirming an expanded spectrum of SCN2A mutations: a case series Volume 16, issue 1, March 2014
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- Key words: SCN2A, early epileptic encephalopathy, channelopathy
- DOI : 10.1684/epd.2014.0641
- Page(s) : 13-8
- Published in: 2014
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.