Do mutations in SCN1B cause Dravet syndrome?

Young Ok Kim, Leanne Dibbens, Carla Marini, Arvid Suls, Nicole Chemaly, Davide Mei, Jacinta M. McMahon, Xenia Iona, Samuel F. Berkovic, Peter De Jonghe, Renzo Guerrini, Rima Nabbout, Ingrid E. Scheffer

Research output: Contribution to journalArticle

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 languageEnglish
Pages (from-to)97-100
Number of pages4
JournalEpilepsy Research
Volume103
Issue number1
DOIs
Publication statusPublished - Jan 2013

Keywords

  • Dravet syndrome
  • Epileptic encephalopathy
  • SCN1B

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

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  • 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