title: Bilateral frontoparietal polymicrogyria: a novel GPR56 mutation and an unusual phenotype.
abstract: 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.
authors: Department of Pediatrics, Hospital de S. João, Porto, Portugal.
authors: Rita
authors: R
authors: Santos-Silva
authors: Department of Pediatrics, Hospital de S. João, Porto, Portugal.
authors: Armanda
authors: A
authors: Passas
authors: Department of Pediatrics, Hospital de S. João, Porto, Portugal.
authors: Carla
authors: C
authors: Rocha
authors: Department of Neuroradiology, Hospital de S. João, Porto, Portugal.
authors: Rita
authors: R
authors: Figueiredo
authors: Neurophysiology Unit, Department of Neurology, Hospital de S. João, Porto, Portugal.
authors: Jose
authors: J
authors: Mendes-Ribeiro
authors: Department of Genetics, Faculty of Medicine of Oporto, Porto, Portugal.
authors: Susana
authors: S
authors: Fernandes
authors: Department of Medical Genetics, Institute of Human Genetics, University of Tuebingen, Tuebingen, Germany.
authors: Saskia
authors: S
authors: Biskup
authors: Pediatric Neurology Unit, Department of Pediatrics, Hospital S. João, Porto, Portugal.
authors: Miguel
authors: M
authors: Leão
mesh_terms: D001921:Brain / Q000473:pathology / Q000503:physiopathology; D002675:Child, Preschool; D004569:Electroencephalography; D004827:Epilepsy / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008297:Male; D054220:Malformations of Cortical Development / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D043562:Receptors, G-Protein-Coupled / Q000235:genetics*
chemical_list: C118925:ADGRG1 protein, human; D043562:Receptors, G-Protein-Coupled