KCNT1 c.769C>G ;(p.H257D)

Variant ID: 9-138650269-C-G

NM_020822.2(KCNT1):c.769C>G;(p.H257D)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.

Genome Research
Traynelis, Joshua J; Silk, Michael M; Wang, Quanli Q; Berkovic, Samuel F SF; Liu, Liping L; Ascher, David B DB; Balding, David J DJ; Petrovski, Slavé S
Publication Date: 2017-10

Variant appearance in text: KCNT1: 769C>G; His257Asp
PubMed Link: 28864458
Variant Present in the following documents:
  • supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1
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: KCNT1: H257D
PubMed Link: 28488083
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutations in KCNT1 cause a spectrum of focal epilepsies.

Epilepsia
Møller, Rikke S RS; Heron, Sarah E SE; Larsen, Line H G LH; Lim, Chiao Xin CX; Ricos, Michael G MG; Bayly, Marta A MA; van Kempen, Marjan J A MJ; Klinkenberg, Sylvia S; Andrews, Ian I; Kelley, Kent K; Ronen, Gabriel M GM; Callen, David D; McMahon, Jacinta M JM; Yendle, Simone C SC; Carvill, Gemma L GL; Mefford, Heather C HC; Nabbout, Rima R; Poduri, Annapurna A; Striano, Pasquale P; Baglietto, Maria G MG; Zara, Federico F; Smith, Nicholas J NJ; Pridmore, Clair C; Gardella, Elena E; Nikanorova, Marina M; Dahl, Hans Atli HA; Gellert, Pia P; Scheffer, Ingrid E IE; Gunning, Boudewijn B; Kragh-Olsen, Bente B; Dibbens, Leanne M LM
Publication Date: 2015-09

Variant appearance in text: KCNT1: 769C>G; His257Asp
PubMed Link: 26122718
Variant Present in the following documents:
  • Main text
View BVdb publication page