Publications:

A conserved glycine harboring disease-associated mutations permits NMDA receptor slow deactivation and high Ca2+ permeability.

Nature Communications

Amin, Johansen B JB; Leng, Xiaoling X; Gochman, Aaron A; Zhou, Huan-Xiang HX; Wollmuth, Lonnie P LP

Publication Date: 2018-09-14

Variant appearance in text: GluN1: G815V

PubMed Link: 30217972

Variant Present in the following documents:

• Main text
• 41467_2018_6145_MOESM1_ESM.pdf
• 41467_2018_Article_6145.pdf

View BVdb publication page

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.

Brain : A Journal Of Neurology

Fry, Andrew E AE; Fawcett, Katherine A KA; Zelnik, Nathanel N; Yuan, Hongjie H; Thompson, Belinda A N BAN; Shemer-Meiri, Lilach L; Cushion, Thomas D TD; Mugalaasi, Hood H; Sims, David D; Stoodley, Neil N; Chung, Seo-Kyung SK; Rees, Mark I MI; Patel, Chirag V CV; Brueton, Louise A LA; Layet, Valérie V; Giuliano, Fabienne F; Kerr, Michael P MP; Banne, Ehud E; Meiner, Vardiella V; Lerman-Sagie, Tally T; Helbig, Katherine L KL; Kofman, Laura H LH; Knight, Kristin M KM; Chen, Wenjuan W; Kannan, Varun V; Hu, Chun C; Kusumoto, Hirofumi H; Zhang, Jin J; Swanger, Sharon A SA; Shaulsky, Gil H GH; Mirzaa, Ghayda M GM; Muir, Alison M AM; Mefford, Heather C HC; Dobyns, William B WB; Mackenzie, Amanda B AB; Mullins, Jonathan G L JGL; Lemke, Johannes R JR; Bahi-Buisson, Nadia N; Traynelis, Stephen F SF; Iago, Heledd F HF; Pilz, Daniela T DT

Publication Date: 2018-03-01

Variant appearance in text: GRIN1: G815V

PubMed Link: 29365063

Variant Present in the following documents:

• Main text

View BVdb publication page

Mutations of N-Methyl-D-Aspartate Receptor Subunits in Epilepsy.

Neuroscience Bulletin

Xu, Xing-Xing XX; Luo, Jian-Hong JH

Publication Date: 2018-06

Variant appearance in text: GRIN1: 2444G>T

PubMed Link: 29124671

Variant Present in the following documents:

• Main text

View BVdb publication page

Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.

Neuroscience Bulletin

Wei, Feng F; Yan, Li-Min LM; Su, Tao T; He, Na N; Lin, Zhi-Jian ZJ; Wang, Jie J; Shi, Yi-Wu YW; Yi, Yong-Hong YH; Liao, Wei-Ping WP

Publication Date: 2017-08

Variant appearance in text: GRIN1: G815V

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

View BVdb publication page

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

Neurology

Lemke, Johannes R JR; Geider, Kirsten K; Helbig, Katherine L KL; Heyne, Henrike O HO; Schütz, Hannah H; Hentschel, Julia J; Courage, Carolina C; Depienne, Christel C; Nava, Caroline C; Heron, Delphine D; Møller, Rikke S RS; Hjalgrim, Helle H; Lal, Dennis D; Neubauer, Bernd A BA; Nürnberg, Peter P; Thiele, Holger H; Kurlemann, Gerhard G; Arnold, Georgianne L GL; Bhambhani, Vikas V; Bartholdi, Deborah D; Pedurupillay, Christeen Ramane J CR; Misceo, Doriana D; Frengen, Eirik E; Strømme, Petter P; Dlugos, Dennis J DJ; Doherty, Emily S ES; Bijlsma, Emilia K EK; Ruivenkamp, Claudia A CA; Hoffer, Mariette J V MJ; Goldstein, Amy A; Rajan, Deepa S DS; Narayanan, Vinodh V; Ramsey, Keri K; Belnap, Newell N; Schrauwen, Isabelle I; Richholt, Ryan R; Koeleman, Bobby P C BP; Sá, Joaquim J; Mendonça, Carla C; de Kovel, Carolien G F CG; Weckhuysen, Sarah S; Hardies, Katia K; De Jonghe, Peter P; De Meirleir, Linda L; Milh, Mathieu M; Badens, Catherine C; Lebrun, Marine M; Busa, Tiffany T; Francannet, Christine C; Piton, Amélie A; Riesch, Erik E; Biskup, Saskia S; Vogt, Heinrich H; Dorn, Thomas T; Helbig, Ingo I; Michaud, Jacques L JL; Laube, Bodo B; Syrbe, Steffen S

Publication Date: 2016-06-07

Variant appearance in text: GRIN1: Gly815Val

PubMed Link: 27164704

Variant Present in the following documents:

• NEUROLOGY2015694455.pdf
• supp_WNL.0000000000002740_Tables.pdf

View BVdb publication page