Unusual variability of PRRT2 linked phenotypes within a family

Eur J Paediatr Neurol. 2014 Jul;18(4):540-2. doi: 10.1016/j.ejpn.2014.03.012. Epub 2014 Apr 8.


Background: Mutations in the proline-rich transmembrane protein 2 (PRRT2) gene on chromosome 16p11.2 have recently been identified as a cause of paroxysmal kinesigenic dyskinesias (PKD), infantile convulsions and choreoathetosis (ICCA) syndrome or infantile convulsions (IC).

Aims: Here, we describe a family with four affected members. They all suffer from different diseases: febrile convulsion, epileptic seizures, PKD or headache.

Methods: The whole coding region of PRRT2 gene has been analyzed.

Results: Molecular testing revealed the PRRT2 gene mutation c649.delC in exon 2 for all three sibs as well as for the mother.

Conclusion: Our presented family case shows the great variability within PRRT2 linked phenotypes even within the same family. Further and more detailed studies will be needed before genetic findings enter into the daily diagnostic and the daily genetic counseling with all its consequences.

Keywords: Asymptomatic mutation carrier; Benign infantile familial convulsions; Mutation; PRRT2; Paroxysmal kinesigenic dyskinesias; Phenotype.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Chorea / complications
  • Chorea / genetics*
  • Dyskinesias / complications
  • Dyskinesias / genetics*
  • Epilepsy, Benign Neonatal / complications
  • Epilepsy, Benign Neonatal / genetics*
  • Family Health*
  • Female
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Mutation / genetics*
  • Nerve Tissue Proteins / genetics*
  • Phenotype
  • Seizures / complications
  • Seizures / genetics*


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

Supplementary concepts

  • Infantile convulsions and paroxysmal choreoathetosis, familial