Publications:

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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: Ser100Phe

PubMed Link: 35845605

Variant Present in the following documents:

• Main text
• fnmol-15-870182.pdf

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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: S100F

PubMed Link: 35663267

Variant Present in the following documents:

• Main text
• fnmol-15-807202.pdf

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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: 299C>T; Ser100Phe

PubMed Link: 35359639

Variant Present in the following documents:

• Main text
• fneur-13-832380.pdf

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: HCN1: S100F

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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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: S100F

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

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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: 299C>T; Ser100Phe

PubMed Link: 27066588

Variant Present in the following documents:

• supp_2.1.e51_table_e-2.xlsx, sheet 1

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An N-Terminal ER Export Signal Facilitates the Plasma Membrane Targeting of HCN1 Channels in Photoreceptors.

Investigative Ophthalmology & Visual Science

Pan, Yuan Y; Laird, Joseph G JG; Yamaguchi, David M DM; Baker, Sheila A SA

Publication Date: 2015-06

Variant appearance in text: HCN1: S100F

PubMed Link: 26030105

Variant Present in the following documents:

• Main text

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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: S100F

PubMed Link: 25805968

Variant Present in the following documents:

• Main text
• fncel-09-00071.pdf

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