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Bilateral Frontoparietal Polymicrogyria (BFPP)
Gene (#OMIM):GPR56 (*604110)
Bilateral Frontoparietal Polymicrogyria (BFPP) is a newly recognized genetic disorder with autosomal recessive inheritance. This means that most children with this disorder are born to parents who are silent carriers of a mutation that may never have presented itself in the family before. Usually, our brains have folds in the cortex (the outer layer) that increase the surface area. These folds are referred to as gyri. When an individual has polymicrogyria, there are many more folds than usual but each fold is very small. With BFPP, the polymicrogyria is primarily found in the frontal and the parietal lobes of the brain. The diagnosis is made by brain imaging with a CT scan or MRI.
Dr. Xianhua Piao identified a gene responsible for Bilateral Frontoparietal Polymicrogyria, GPR56, which was recently published in Science (Piao et al., 2004). The gene was found by studying 22 individuals with BFPP from 12 families.
Additionally, Dr. Bernard Chang described the clinical and radiological features of 19 patients from 10 families with BFPP (Chang et al, 2003). He found that the majority of patients with BFPP have developmental delay, gait difficulty, language impairment, dysconjugate gaze (often esotropia, meaning crossed eyes), and seizures.
We have characterized mutations of the GPR56 gene and established phenotype-genotype correlations in patients with BFPP and Lennox-Gastaut syndrome. We are continuing to enroll patients/families with BFPP to continue these studies.
If you have a child who you think may have this condition and you would like us to review the diagnosis or provide genetic testing please contact us at firstname.lastname@example.org.