Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy

Jennifer A. Kearney, Anna K. Wiste, Ulrich Stephani, Michelle M. Trudeau, Anne Siegel, Rajesh Ramachandrannair, Roy D. Elterman, Hiltrud Muhle, Juliane Reinsdorf, W. Donald Shields, Miriam H. Meisler, Andrew Escayg*

*Corresponding author for this work

Research output: Contribution to journalArticle

39 Scopus citations

Abstract

Mutations in the voltage-gated sodium channel gene SCN1A are a major cause of severe myoclonic epilepsy of infancy (Dravet syndrome) and generalized epilepsy with febrile seizures plus. This study reports the identification of six de novo SCN1A mutations in patients with severe myoclonic epilepsy of infancy, including a tetranucleotide deletion in exon 26. The same deletion was previously observed in two unrelated patients and appears to result from slipped-strand mispairing of a direct repeat during deoxyribonucleic acid replication. Review of the literature indicates that recurrent mutations account for 25% of SCN1A mutations in severe myoclonic epilepsy of infancy, including six sites of deamination at CpG dinucleotides.

Original languageEnglish (US)
Pages (from-to)116-120
Number of pages5
JournalPediatric neurology
Volume34
Issue number2
DOIs
StatePublished - Feb 1 2006

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Developmental Neuroscience
  • Clinical Neurology

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    Kearney, J. A., Wiste, A. K., Stephani, U., Trudeau, M. M., Siegel, A., Ramachandrannair, R., Elterman, R. D., Muhle, H., Reinsdorf, J., Shields, W. D., Meisler, M. H., & Escayg, A. (2006). Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy. Pediatric neurology, 34(2), 116-120. https://doi.org/10.1016/j.pediatrneurol.2005.07.009