De novo mutations in GRIN1 cause extensive bilateral polymicrogyria

Autor: Alison M. Muir, Hongjie Yuan, Belinda A.N. Thompson, Hirofumi Kusumoto, Ehud Banne, Fabienne Giuliano, Amanda B. Mackenzie, Vardiella Meiner, Chun Hu, Michael Patrick Kerr, Valérie Layet, Kristin M. Knight, Gil Shaulsky, Heledd F. Iago, Hood Mugalaasi, Daniela T. Pilz, Varun Kannan, Lilach Shemer-Meiri, William B. Dobyns, Andrew E. Fry, Nathanel Zelnik, Mark I. Rees, Jin Zhang, Johannes R. Lemke, David Sims, Chirag Patel, Laura H. Kofman, Nadia Bahi-Buisson, Louise A. Brueton, Seo-Kyung Chung, Stephen F. Traynelis, Thomas D. Cushion, Wenjuan Chen, Katherine L. Helbig, Heather C Mefford, Tally Lerman-Sagie, Ghayda M. Mirzaa, Jonathan G. L. Mullins, Neil Stoodley, Katherine A. Fawcett, Sharon A. Swanger

Publikováno v: Mackenzie, A, Fry, A, Thomposon, B, Fawcett, K, Zelnik, N, Shemer-Meiri, L, cushion, T, Mugalaasi, H & Stoodley, N 2018, ' De novo mutations in GRIN1 cause extensive bilateral polymicrogyria ', Brain : A Journal of Neurology . https://doi.org/10.1093/brain/awx358
Brain

NMDA receptor agonists have been used for many years to generate animal models of polymicrogyria, a malformation of cortical development. Fry et al. identify de novo GRIN1 mutations in eleven patients with severe bilateral polymicrogyria. Polymicrogy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb67bb771886856a19333313ed3281ab
https://purehost.bath.ac.uk/ws/files/160097231/Fry_GRIN1_Main_Text_R1_171017_accepted.pdf

First genomic localization of oculo-oto-dental syndrome with linkage to chromosome 20q13.1

Autor: Helena, Vieira, Kevin, Gregory-Evans, Natasha, Lim, John L, Brookes, Louise A, Brueton, Cheryl Y, Gregory-Evans

Publikováno v: Investigative ophthalmologyvisual science. 43(8)

To characterize the phenotype of autosomal dominant oculo-oto-dental (OOD) syndrome, map the disease locus in a five-generation British family, and evaluate a candidate gene.Full clinical assessments in all affected patients included slit lamp and re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d5abf19e045f8d9e7e4e520b02d7ea0c
https://pubmed.ncbi.nlm.nih.gov/12147582