Bilateral Frontoparietal Polymicrogyria

Also Known As:

Polymicrogyria, Bilateral Frontoparietal; Cerebellar Ataxia with Neuronal Migration Defect

Networked: 14 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Nervous System Diseases: 14178
- Nervous System Malformations: 35
  - Malformations of Cortical Development: 376
    - Bilateral Frontoparietal Polymicrogyria: 14
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Nervous System Malformations: 35
    - Malformations of Cortical Development: 376
      - Bilateral Frontoparietal Polymicrogyria: 14

Related Diseases

1.	Intellectual Disability (Idiocy)
2.	Usher Syndromes (Usher Syndrome)
3.	Seizures (Absence Seizure)
4.	Neurologic Manifestations (Neurological Manifestations)
5.	Nervous System Diseases (Neurological Disorders)

Experts

1.	Piao, Xianhua: 6 articles (01/2015 - 03/2004)
2.	Jeong, Sung-Jin: 3 articles (01/2015 - 01/2013)
3.	Luo, Rong: 3 articles (01/2015 - 01/2013)
4.	Chang, Gin-Wen: 2 articles (01/2016 - 04/2011)
5.	Chiang, Nien-Yi: 2 articles (01/2016 - 04/2011)
6.	Hsiao, Cheng-Chih: 2 articles (01/2016 - 04/2011)
7.	Huang, Yi-Shu: 2 articles (01/2016 - 04/2011)
8.	Lin, Hsi-Hsien: 2 articles (01/2016 - 04/2011)
9.	Chang, Bernard S: 2 articles (01/2015 - 03/2004)
10.	Corfas, Gabriel: 2 articles (01/2015 - 06/2009)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Bilateral Frontoparietal Polymicrogyria:

1.	G-Protein-Coupled Receptors (Receptors, G Protein Coupled)IBA 01/01/2017 - "Given that N-terminal truncation of G1 and other adhesion G protein-coupled receptors has been shown to significantly increase the receptors' constitutive signaling, we examined two different bilateral frontoparietal polymicrogyria-inducing extracellular loop mutations (R565W and L640R) in the context of both full-length and N-terminally truncated (ΔNT) G1. " 01/01/2016 - "GPR56 is an adhesion-class G-protein-coupled receptor responsible for bilateral frontoparietal polymicrogyria (BFPP), a severe disorder of cortical formation. " 01/21/2015 - "Mutations in GPR56, a member of the adhesion G protein-coupled receptor family, cause a human brain malformation called bilateral frontoparietal polymicrogyria (BFPP). " 02/01/2013 - "GPR56, a member of the adhesion G protein-coupled receptor (GPCR) family, is integral to the development of the cortex, as mutations in GPR56 cause bilateral frontoparietal polymicrogyria (BFPP). " 01/01/2013 - "Loss of function mutations in GPR56, which encodes a G protein-coupled receptor, cause a specific human brain malformation called bilateral frontoparietal polymicrogyria (BFPP). "
2.	LigandsIBA 09/01/2017 - "Bilateral frontoparietal polymicrogyria of the cobblestone variant, cerebellar microcysts, and abnormalities of the white matter characterize this brain phenotype and resemble neurological manifestations in individuals with autosomal recessive mutations in GPR56, which serves as a ligand of COL3A1. " 03/01/2011 - "On the basis of structure, function and ligand binding sites, competitive EMR2 inhibitors designed may decrease the rate of human diseases like Usher's syndrome, bilateral frontoparietal polymicrogyria and PKD."
3.	Nonsense Codon (Nonsense Mutation)IBA 01/01/2018 - "GPR56 homozygous nonsense mutation p.R271* associated with phenotypic variability in bilateral frontoparietal polymicrogyria. " 01/01/2018 - "GPR56 homozygous nonsense mutation p.R271* associated with phenotypic variability in bilateral frontoparietal polymicrogyria."
4.	Creatine Kinase (Creatine Phosphokinase)IBA 12/01/2013 - "In agreement with these findings, clinical data from 13 bilateral frontoparietal polymicrogyria patients revealed mild serum creatine kinase increase in only two patients. "