• Media type: E-Article
  • Title: Adults with a history of possible Dravet syndrome: An illustration of the importance of analysis of the SCN1A gene
  • Contributor: Verbeek, Nienke E.; van Kempen, Marjan; Gunning, W. Boudewijn; Renier, Willy O.; Westland, Birgit; Lindhout, Dick; Brilstra, Eva H.
  • imprint: Wiley, 2011
  • Published in: Epilepsia
  • Language: English
  • DOI: 10.1111/j.1528-1167.2011.02982.x
  • ISSN: 0013-9580; 1528-1167
  • Keywords: Neurology (clinical) ; Neurology
  • Origination:
  • Footnote:
  • Description: <jats:title>Summary</jats:title><jats:p>Most patients with Dravet syndrome have de novo mutations in the neuronal voltage‐gated sodium channel type 1 (<jats:italic>SCN1A</jats:italic>) 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 <jats:italic>SCN1A</jats:italic> 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.</jats:p>
  • Access State: Open Access