Benign infantile convulsions (IC) and subsequent paroxysmal kinesigenic dyskinesia (PKD) in a patient with 16p11.2 microdeletion syndrome

Neurogenetics. 2013 Nov;14(3-4):251-3. doi: 10.1007/s10048-013-0376-7. Epub 2013 Oct 8.

Abstract

Paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) is caused by mutations in the gene PRRT2 located in 16p11.2. A deletion syndrome 16p11.2 is well established and is characterized by intellectual disability, speech delay, and autism. PKD/IC, however, is extremely rare in this syndrome. We describe a case of PKD/IC and 16p11.2 deletion syndrome and discuss modifiers of PRRT2 activity to explain the rare concurrence of both syndromes.

Publication types

  • Case Reports

MeSH terms

  • Autistic Disorder / complications
  • Autistic Disorder / genetics*
  • Child
  • Chorea / etiology
  • Chorea / genetics*
  • Chromosome Deletion
  • Chromosome Disorders / complications
  • Chromosome Disorders / genetics*
  • Chromosomes, Human, Pair 16 / genetics
  • Dystonia
  • Epilepsy, Benign Neonatal / etiology
  • Epilepsy, Benign Neonatal / genetics*
  • Genes, Modifier
  • Humans
  • Intellectual Disability / complications
  • Intellectual Disability / genetics*
  • Male
  • Membrane Proteins / genetics*
  • Nerve Tissue Proteins / genetics*
  • Polymorphism, Single Nucleotide

Substances

  • Membrane Proteins
  • Nerve Tissue Proteins
  • PRRT2 protein, human

Supplementary concepts

  • 16p11.2 Deletion Syndrome
  • Familial paroxysmal dystonia