2. Academic Validation
  3. PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome

PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome

  • Am J Hum Genet. 2012 Jan 13;90(1):152-60. doi: 10.1016/j.ajhg.2011.12.003.
Sarah E Heron 1,  Bronwyn E Grinton,  Sara Kivity,  Zaid Afawi,  Sameer M Zuberi,  James N Hughes,  Clair Pridmore,  Bree L Hodgson,  Xenia Iona,  Lynette G Sadleir,  James Pelekanos,  Eric Herlenius,  Hadassa Goldberg-Stern,  Haim Bassan,  Eric Haan,  Amos D Korczyn,  Alison E Gardner,  Mark A Corbett,  Jozef Gécz,  Paul Q Thomas,  John C Mulley,  Samuel F Berkovic,  Ingrid E Scheffer,  Leanne M Dibbens
Affiliations

Affiliation

  • 1 Epilepsy Research Program, School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, Australia.
PMID: 22243967 DOI: 10.1016/j.ajhg.2011.12.003
Abstract

Benign familial infantile epilepsy (BFIE) is a self-limited seizure disorder that occurs in infancy and has autosomal-dominant inheritance. We have identified heterozygous mutations in PRRT2, which encodes proline-rich transmembrane protein 2, in 14 of 17 families (82%) affected by BFIE, indicating that PRRT2 mutations are the most frequent cause of this disorder. We also report PRRT2 mutations in five of six (83%) families affected by infantile convulsions and choreoathetosis (ICCA) syndrome, a familial syndrome in which infantile seizures and an adolescent-onset movement disorder, paroxysmal kinesigenic choreoathetosis (PKC), co-occur. These findings show that mutations in PRRT2 cause both epilepsy and a movement disorder. Furthermore, PRRT2 mutations elicit pleiotropy in terms of both age of expression (infancy versus later childhood) and anatomical substrate (cortex versus basal ganglia).

Figures