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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.
The protein structure of a novel missense variant (p.Leu290Pro) was predicted by in silico studies, and molecular analysis was performed via typical flow cytometry and Western blotting. ...
The protein structure of a novel missense variant (p.Leu290Pro) was predicted by in silico studies, and molecular analysis was perfor …
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.
In Family 2, with one affected proband, we found an R79X change affecting the protein N-terminus and predicted to cause a premature truncation with loss of the G-protein-coupled receptor proteolytic site. ...
In Family 2, with one affected proband, we found an R79X change affecting the protein N-terminus and predicted to cause a premature t …
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
The 14 patients with GPR56 mutations (median 8.25 years, range 1.5-33 years) were phenotypically homogeneous with a distinctive clinical course characterized by pseudomyopathic behaviour at onset that subsequently evolved into severe mental and motor retardation. ...
The 14 patients with GPR56 mutations (median 8.25 years, range 1.5-33 years) were phenotypically homogeneous with a distinctive clinical …
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
All the missense point mutations are located in the regions predicted to be exposed at the cell surface, e.g. the N-terminal extracellular domain (ECD), the proteolytic site (GPS), and the extracellular loops of transmembrane domain (TM), implying functionally important in …
All the missense point mutations are located in the regions predicted to be exposed at the cell surface, e.g. the N-terminal extracel …