Abstract
A homozygous SCN1B mutation was previously identified in a patient with early onset epileptic encephalopathy (EOEE) described as Dravet syndrome (DS) despite a more severe phenotype than DS. We investigated whether SCN1B mutations are a common cause of DS. Patients with DS who did not have a SCN1A sequencing mutation or copy number variation were studied. Genomic DNA was Sanger sequenced for mutations in the 6 exons of SCN1B. In 54 patients with DS recruited from four centres, no SCN1B mutations were identified. SCN1B mutation is not a common cause of DS.
| Original language | English |
|---|---|
| Pages (from-to) | 97-100 |
| Number of pages | 4 |
| Journal | Epilepsy Research |
| Volume | 103 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - Jan 2013 |
Keywords
- Dravet syndrome
- Epileptic encephalopathy
- SCN1B
ASJC Scopus subject areas
- Clinical Neurology
- Neurology
Fingerprint Dive into the research topics of 'Do mutations in SCN1B cause Dravet syndrome?'. Together they form a unique fingerprint.
Cite this
Kim, Y. O., Dibbens, L., Marini, C., Suls, A., Chemaly, N., Mei, D., McMahon, J. M., Iona, X., Berkovic, S. F., De Jonghe, P., Guerrini, R., Nabbout, R., & Scheffer, I. E. (2013). Do mutations in SCN1B cause Dravet syndrome? Epilepsy Research, 103(1), 97-100. https://doi.org/10.1016/j.eplepsyres.2012.10.009