Bilateral frontoparietal polymicrogyria: a novel GPR56 mutation and an unusual phenotype

Neuropediatrics. 2015 Apr;46(2):134-8. doi: 10.1055/s-0034-1399754. Epub 2015 Feb 2.


Loss of function of GPR56 causes a specific brain malformation called the bilateral frontoparietal polymicrogyria (BFPP), which has typical clinical and neuroradiological findings. So far, 35 families and 26 independent mutations have been described.We present a Portuguese 5-year-old boy, born from nonconsanguineous parents, with BFPP. This patient has a novel GPR56 mutation (R271X) and an unusual phenotype, because he presents hot water epilepsy.To the best of our knowledge, this is the first reported case of BFPP evolving hot water epilepsy.

Publication types

  • Case Reports

MeSH terms

  • Brain / pathology
  • Brain / physiopathology
  • Child, Preschool
  • Electroencephalography
  • Epilepsy / complications*
  • Epilepsy / diagnosis
  • Epilepsy / genetics
  • Humans
  • Male
  • Malformations of Cortical Development / complications
  • Malformations of Cortical Development / diagnosis*
  • Malformations of Cortical Development / genetics*
  • Mutation
  • Phenotype
  • Receptors, G-Protein-Coupled / genetics*


  • ADGRG1 protein, human
  • Receptors, G-Protein-Coupled

Supplementary concepts

  • Polymicrogyria, Bilateral Frontoparietal