GRIN2A c.1001T>A ;(p.L334*)

Variant ID: 16-10031822-A-T

NM_001134407.1(GRIN2A):c.1001T>A;(p.L334*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genetic etiologies of the electrical status epilepticus during slow wave sleep: systematic review.

Bmc Genetics
Kessi, Miriam M; Peng, Jing J; Yang, Lifen L; Xiong, Juan J; Duan, Haolin H; Pang, Nan N; Yin, Fei F
Publication Date: 2018-07-06

Variant appearance in text: GRIN2A: 1001T>A
PubMed Link: 29976148
Variant Present in the following documents:
  • 12863_2018_Article_628.pdf
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: GRIN2A: 1001T>A
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: GRIN2A: L334X
PubMed Link: 28488083
Variant Present in the following documents:
  • Main text
View BVdb publication page