Bilateral frontoparietal polymicrogyria: a novel GPR56 mutation and an unusual phenotype.
Neuropediatrics
; 46(2): 134-8, 2015 Apr.
Article
em En
| MEDLINE
| ID: mdl-25642806
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Receptores Acoplados a Proteínas G
/
Epilepsia
/
Malformações do Desenvolvimento Cortical
Tipo de estudo:
Diagnostic_studies
Limite:
Child, preschool
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2015
Tipo de documento:
Article