Dravet phenotype in a subject with a der(4)t(4;8)(p16.3;p23.3) without the involvement of the LETM1 gene

Eur J Med Genet. 2013 Oct;56(10):551-5. doi: 10.1016/j.ejmg.2013.08.003. Epub 2013 Aug 31.


We present a patient affected by Dravet syndrome. Thorough analysis of genes that might be involved in the pathogenesis of such phenotype with both conventional and next generation sequencing resulted negative, therefore she was investigated by a-GCH that showed the presence of an unbalanced translocation resulting in a der(4)t(4;8)(p16.3,p23.3). This was an unconventional translocation, different from the recurrent translocation affiliated with WHS and did not involve LETM1.

Keywords: Dravet syndrome; WHS; der(4)t(4;8)(p16.3,p23.3).

Publication types

  • Case Reports

MeSH terms

  • Anticonvulsants / therapeutic use
  • Calcium-Binding Proteins / genetics*
  • Child
  • Chromosomes, Human, Pair 4 / genetics*
  • Epilepsies, Myoclonic / diagnosis*
  • Epilepsies, Myoclonic / drug therapy
  • Epilepsies, Myoclonic / genetics
  • Female
  • Humans
  • Membrane Proteins / genetics*
  • Phenotype
  • Translocation, Genetic
  • Treatment Outcome
  • Valproic Acid / therapeutic use


  • Anticonvulsants
  • Calcium-Binding Proteins
  • LETM1 protein, human
  • Membrane Proteins
  • Valproic Acid