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Identification and clinical characteristics of a novel missense ADGRG1 variant in bilateral Frontoparietal Polymicrogyria: The electroclinical change from infancy to adulthood after Callosotomy in three siblings.
Kuo CY, Tsai MH, Lin HH, Wang YC, Singh AK, Chang CC, Lin JJ, Hung PC, Lin KL. Kuo CY, et al. Epilepsia Open. 2023 Mar;8(1):154-164. doi: 10.1002/epi4.12685. Epub 2023 Jan 11. Epilepsia Open. 2023. PMID: 36524291 Free PMC article. Review.
OBJECTIVE: Bilateral frontoparietal polymicrogyria (BFPP) is a rare genetic-related migration disorder. ...The protein structure of a novel missense variant (p.Leu290Pro) was predicted by in silico studies, and molecular analysis was performed via typi …
OBJECTIVE: Bilateral frontoparietal polymicrogyria (BFPP) is a rare genetic-related migration disorder. ...The protein …
GPR56 and its related diseases.
Jin Z, Luo R, Piao X. Jin Z, et al. Prog Mol Biol Transl Sci. 2009;89:1-13. doi: 10.1016/S1877-1173(09)89001-7. Epub 2009 Oct 7. Prog Mol Biol Transl Sci. 2009. PMID: 20374731 Review.
However, the function of GPR56 remained unclear until 2004 when mutations in the human GPR56 gene were found to cause a specific brain malformation called bilateral frontoparietal polymicrogyria. Although GPR56 is expressed in a wide range of tissues, the con …
However, the function of GPR56 remained unclear until 2004 when mutations in the human GPR56 gene were found to cause a specific brain malfo …
Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16.
Chang BS, Piao X, Bodell A, Basel-Vanagaite L, Straussberg R, Dobyns WB, Qasrawi B, Winter RM, Innes AM, Voit T, Grant PE, Barkovich AJ, Walsh CA. Chang BS, et al. Ann Neurol. 2003 May;53(5):596-606. doi: 10.1002/ana.10520. Ann Neurol. 2003. PMID: 12730993
Multiple syndromes of region-specific bilateral symmetric polymicrogyria have been reported. We previously have described two families with bilateral frontoparietal polymicrogyria (BFPP), an autosomal recessive syndrome that we mapped to a locus on chromosome …
Multiple syndromes of region-specific bilateral symmetric polymicrogyria have been reported. We previously have described two families with …
Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations.
Parrini E, Ferrari AR, Dorn T, Walsh CA, Guerrini R. Parrini E, et al. Epilepsia. 2009 Jun;50(6):1344-53. doi: 10.1111/j.1528-1167.2008.01787.x. Epub 2008 Oct 6. Epilepsia. 2009. PMID: 19016831 Free PMC article.
PURPOSE: Bilateral frontoparietal polymicrogyria (BFPP) has been reported in sporadic patients and in recessive pedigrees. ...In Family 2, with one affected proband, we found an R79X change affecting the protein N-terminus and predicted to cause a prem …
PURPOSE: Bilateral frontoparietal polymicrogyria (BFPP) has been reported in sporadic patients and in recessive pedigre …
GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.
Bahi-Buisson N, Poirier K, Boddaert N, Fallet-Bianco C, Specchio N, Bertini E, Caglayan O, Lascelles K, Elie C, Rambaud J, Baulac M, An I, Dias P, des Portes V, Moutard ML, Soufflet C, El Maleh M, Beldjord C, Villard L, Chelly J. Bahi-Buisson N, et al. Brain. 2010 Nov;133(11):3194-209. doi: 10.1093/brain/awq259. Epub 2010 Oct 7. Brain. 2010. PMID: 20929962
GPR56 mutations cause an autosomal recessive polymicrogyria syndrome that has distinctive radiological features combining bilateral frontoparietal polymicrogyria, white matter abnormalities and cerebellar hypoplasia. ...Additionally, the white matter abnormal …
GPR56 mutations cause an autosomal recessive polymicrogyria syndrome that has distinctive radiological features combining bilateral …
Compound heterozygosity in GPR56 with bilateral frontoparietal polymicrogyria.
Fujii Y, Ishikawa N, Kobayashi Y, Kobayashi M, Kato M. Fujii Y, et al. Brain Dev. 2014 Jun;36(6):528-31. doi: 10.1016/j.braindev.2013.07.015. Epub 2013 Aug 24. Brain Dev. 2014. PMID: 23981349
At present, only one gene (GPR56) is known to cause polymicrogyria, which leads to a distinctive phenotype termed bilateral frontoparietal polymicrogyria (BFPP). BFPP is an autosomal recessive inherited human brain malformation with abnormal cortical laminati …
At present, only one gene (GPR56) is known to cause polymicrogyria, which leads to a distinctive phenotype termed bilateral fronto …
Overlapping neurological phenotypes in two extended consanguineous families with novel variants in the CNTNAP1 and ADGRG1 genes.
Khan S, Umair M, Abbas S, Ali U, Zaman G, Ansar M, Wang R, Zhang X, Houlden H, Harlalka GV, Gul A. Khan S, et al. J Gene Med. 2023 Oct;25(10):e3513. doi: 10.1002/jgm.3513. Epub 2023 May 13. J Gene Med. 2023. PMID: 37178061
(Trp111Cys) in the CNTNAP1 gene in family A, previously associated with Congenital Hypo myelinating Neuropathy 3 (CHN3; OMIM # 618186) and a novel nonsense variant in family B, (GRCh38: chr16: 57654086C>T; NC_000016.10 (NM_001370440.1): c.721C>T); (NP_001357369.1): p.(Gln24 …
(Trp111Cys) in the CNTNAP1 gene in family A, previously associated with Congenital Hypo myelinating Neuropathy 3 (CHN3; OMIM # 618186) and a …
An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21.
Piao X, Basel-Vanagaite L, Straussberg R, Grant PE, Pugh EW, Doheny K, Doan B, Hong SE, Shugart YY, Walsh CA. Piao X, et al. Am J Hum Genet. 2002 Apr;70(4):1028-33. doi: 10.1086/339552. Epub 2002 Feb 13. Am J Hum Genet. 2002. PMID: 11845408 Free PMC article.
We studied two consanguineous Palestinian pedigrees with an autosomal recessive form of bilateral frontoparietal polymicrogyria (BFPP), using linkage analysis. ...The locus for BFPP maps to chromosome 16q12.2-21, with a minimal interval of 17 cM. For D16S514, …
We studied two consanguineous Palestinian pedigrees with an autosomal recessive form of bilateral frontoparietal polymicrog …
Biochemical characterization of genetic mutations of GPR56 in patients with bilateral frontoparietal polymicrogyria (BFPP).
Ke N, Ma H, Diedrich G, Chionis J, Liu G, Yu DH, Wong-Staal F, Li QX. Ke N, et al. Biochem Biophys Res Commun. 2008 Feb 8;366(2):314-20. doi: 10.1016/j.bbrc.2007.11.071. Epub 2007 Nov 26. Biochem Biophys Res Commun. 2008. PMID: 18042463
Bilateral frontoparietal polymicrogyria (BFPP) is a rare genetic disease characterized by cortical malformation associated with GPR56 mutations of frameshift, splicing, and point mutations (Science 303:2033). All the missense point mutations are located in th …
Bilateral frontoparietal polymicrogyria (BFPP) is a rare genetic disease characterized by cortical malformation associa …
Loss of Col3a1, the gene for Ehlers-Danlos syndrome type IV, results in neocortical dyslamination.
Jeong SJ, Li S, Luo R, Strokes N, Piao X. Jeong SJ, et al. PLoS One. 2012;7(1):e29767. doi: 10.1371/journal.pone.0029767. Epub 2012 Jan 3. PLoS One. 2012. PMID: 22235340 Free PMC article.
Mutations in GPR56 cause a severe human brain malformation called bilateral frontoparietal polymicrogyria, in which neurons transmigrate through the BM causing severe mental retardation and frequent seizures. To further characterize the brain phenotype of Col …
Mutations in GPR56 cause a severe human brain malformation called bilateral frontoparietal polymicrogyria, in which neu …
12 results