HCN1 c.814T>C ;(p.S272P)

Variant ID: 5-45645322-A-G

NM_021072.3(HCN1):c.814T>C;(p.S272P)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Novel HCN1 Mutations Associated With Epilepsy and Impacts on Neuronal Excitability.

Frontiers In Molecular Neuroscience
Xie, Changning C; Liu, Fangyun F; He, Hailan H; He, Fang F; Mao, Leilei L; Wang, Xiaole X; Yin, Fei F; Peng, Jing J
Publication Date: 2022

Variant appearance in text: HCN1: Ser272Pro
PubMed Link: 35845605
Variant Present in the following documents:
  • Main text
  • fnmol-15-870182.pdf
View BVdb publication page



The Contribution of HCN Channelopathies in Different Epileptic Syndromes, Mechanisms, Modulators, and Potential Treatment Targets: A Systematic Review.

Frontiers In Molecular Neuroscience
Kessi, Miriam M; Peng, Jing J; Duan, Haolin H; He, Hailan H; Chen, Baiyu B; Xiong, Juan J; Wang, Ying Y; Yang, Lifen L; Wang, Guoli G; Kiprotich, Karlmax K; Bamgbade, Olumuyiwa A OA; He, Fang F; Yin, Fei F
Publication Date: 2022

Variant appearance in text: HCN1: S272P
PubMed Link: 35663267
Variant Present in the following documents:
  • Main text
  • fnmol-15-807202.pdf
View BVdb publication page



Do All Roads Lead to Rome? Genes Causing Dravet Syndrome and Dravet Syndrome-Like Phenotypes.

Frontiers In Neurology
Ding, Jiangwei J; Wang, Lei L; Jin, Zhe Z; Qiang, Yuanyuan Y; Li, Wenchao W; Wang, Yangyang Y; Zhu, Changliang C; Jiang, Shucai S; Xiao, Lifei L; Hao, Xiaoyan X; Hu, Xulei X; Li, Xinxiao X; Wang, Feng F; Sun, Tao T
Publication Date: 2022

Variant appearance in text: HCN1: 814T>C; Ser272Pro
PubMed Link: 35359639
Variant Present in the following documents:
  • Main text
  • fneur-13-832380.pdf
View BVdb publication page



Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances
Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X
Publication Date: 2020-07

Variant appearance in text: HCN1: 814T>C; Ser272Pro
PubMed Link: 32832622
Variant Present in the following documents:
  • aba1773_Data_file_S1.xlsx, sheet 2
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: HCN1: S272P
PubMed Link: 28488083
Variant Present in the following documents:
  • Main text
View BVdb publication page



In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery.

Neurology. Genetics
Oliver, Karen L KL; Lukic, Vesna V; Freytag, Saskia S; Scheffer, Ingrid E IE; Berkovic, Samuel F SF; Bahlo, Melanie M
Publication Date: 2016-02

Variant appearance in text: HCN1: 814T>C; Ser272Pro
PubMed Link: 27066588
Variant Present in the following documents:
  • supp_2.1.e51_table_e-2.xlsx, sheet 1
View BVdb publication page



Dysfunctional HCN ion channels in neurological diseases.

Frontiers In Cellular Neuroscience
DiFrancesco, Jacopo C JC; DiFrancesco, Dario D
Publication Date: 2015

Variant appearance in text: HCN1: S272P
PubMed Link: 25805968
Variant Present in the following documents:
  • Main text
  • fncel-09-00071.pdf
View BVdb publication page



HCN1 Gain-Of-Function Mutations - A New Cause of Epileptic Encephalopathy.

Epilepsy Currents
Poduri, Annapurna A
Publication Date: 2014

Variant appearance in text: HCN1: S272P
PubMed Link: 25678871
Variant Present in the following documents:
  • Main text
View BVdb publication page