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GPR56 and Bilateral Frontoparietal Polymicrogyria 

GPR56 and Bilateral Frontoparietal Polymicrogyria
GPR56 and Bilateral Frontoparietal Polymicrogyria

Xianhua Piao

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date: 28 July 2021

Polymicrogyria is a developmental cortical malformation in which the brain surface is irregular and the normally convoluted gyri are replaced by numerous (poly) and noticeably smaller (micro) gyri. One type of autosomal recessively inherited polymicrogyria is known as bilateral frontoparietal polymicrogyria (BFPP). Individuals with BFPP suffer from intellectual and developmental disabilities, motor developmental delay, seizures, dysconjugate gaze, and clumsy movement. Magnetic resonance imaging (MRI) of BFPP brains demonstrates symmetric polymicrogyria with a decreasing anterior-to-posterior gradient of involvement, as well as ventriculomegaly, bilateral white matter signal changes, and brain stem and cerebellar hypoplasia. The BFPP locus was mapped to chromosome 16q12-21 and the causative gene is GPR56, a member of the adhesion G protein-coupled receptor (GPCRs) family. The diagnosis of BFPP is established on the basis of clinical presentation, brain MRI findings, and genetic testing. Treatment consists of supportive measures and seizure management, with a focus on quality of life.

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