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PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine

Robin Cloarec1, Nadine Bruneau, Gabrielle Rudolf

  • 1Institut de Neurobiologie de la Méditerranée, Marseille, France.

Neurology
|October 19, 2012
PubMed

Insights

Mutations in the PRRT2 gene cause infantile convulsions and paroxysmal kinesigenic dyskinesia. This study expands the known phenotypes to include hemiplegic migraine and other migraine types.

Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • The PRRT2 gene is implicated in infantile convulsions (IC) and paroxysmal kinesigenic dyskinesia (PKD), forming the PKD/IC syndrome.
  • Phenotypic variability, including interfamilial and intrafamilial differences, is observed in patients with PRRT2 mutations.
  • Previous reports suggest an association between IC and hemiplegic migraine (HM).

Purpose of the Study:

  • To investigate the mutational spectrum of the PRRT2 gene in families with typical PKD/IC or PKD/IC associated with migraine.
  • To explore the clinical spectrum of PRRT2 mutations, including their association with various migraine types.

Main Methods:

  • Sanger sequencing of all PRRT2 coding exons and exon-intron boundaries was performed.
  • Probands and their affected relatives were analyzed for PRRT2 mutations.

Main Results:

  • Two known and two novel PRRT2 mutations were identified in 18 out of 34 analyzed families.
  • The recurrent p.R217Pfs*8 mutation was found in approximately 50% of typical PKD/IC cases.
  • PRRT2 mutations were associated with PKD/IC in conjunction with hemiplegic migraine and other migraine subtypes, including migraine with and without aura.

Conclusions:

  • The study expands the known spectrum of PRRT2 mutations and associated phenotypes to include hemiplegic migraine and other migraine types.
  • PRRT2 mutations exhibit significant phenotypic pleiotropy, manifesting in diverse neurological conditions.
  • These findings underscore the importance of genetic testing for PRRT2 in patients presenting with complex neurological phenotypes including epilepsy and movement disorders.
Abstract

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