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Epilepsia. 2011 Apr;52(4):e23-5. doi: 10.1111/j.1528-1167.2011.02982.x. Epub 2011 Mar 3.

Adults with a history of possible Dravet syndrome: an illustration of the importance of analysis of the SCN1A gene.

Author information

  • 1DBG-Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands. n.verbeek@umcutrecht.nl

Abstract

Most patients with Dravet syndrome have de novo mutations in the neuronal voltage-gated sodium channel type 1 (SCN1A) gene. We report on two unrelated fathers with severe childhood epilepsy compatible with a possible diagnosis of Dravet syndrome, who both have a child with Dravet syndrome. Analysis of the SCN1A gene revealed a pathogenic mutation in both children. One father exhibited somatic mosaicism for the mutation detected in his son. A relatively favorable cognitive outcome in patients with Dravet syndrome patients may be explained by somatic mosaicism for the SCN1A mutation in brain tissue. A mild form of Dravet syndrome in adult patients is associated with a high recurrence risk and possibly a more severe epilepsy phenotype in their offspring.

Wiley Periodicals, Inc. © 2011 International League Against Epilepsy.

PMID:
21371021
[PubMed - indexed for MEDLINE]
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