Publications:

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Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Frontiers In Genetics

Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A

Publication Date: 2023

Variant appearance in text: HCN2: 1580G>A; Arg527Gln

PubMed Link: 36923788

Variant Present in the following documents:

• Table3.xlsx, sheet 1

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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: HCN2: R527Q

PubMed Link: 35663267

Variant Present in the following documents:

• Main text
• fnmol-15-807202.pdf

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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: HCN2: R527Q

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs55687900

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: HCN2: R527Q

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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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: HCN2: R527Q

PubMed Link: 25805968

Variant Present in the following documents:

• Main text
• fncel-09-00071.pdf

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Recessive loss-of-function mutation in the pacemaker HCN2 channel causing increased neuronal excitability in a patient with idiopathic generalized epilepsy.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience

DiFrancesco, Jacopo C JC; Barbuti, Andrea A; Milanesi, Raffaella R; Coco, Stefania S; Bucchi, Annalisa A; Bottelli, Georgia G; Ferrarese, Carlo C; Franceschetti, Silvana S; Terragni, Benedetta B; Baruscotti, Mirko M; DiFrancesco, Dario D

Publication Date: 2011-11-30

Variant appearance in text: HCN2: R527Q

PubMed Link: 22131395

Variant Present in the following documents:

• Main text

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HCN channelopathies: pathophysiology in genetic epilepsy and therapeutic implications.

British Journal Of Pharmacology

Reid, Christopher A CA; Phillips, A Marie AM; Petrou, Steven S

Publication Date: 2012-01

Variant appearance in text: HCN2: R527Q

PubMed Link: 21615728

Variant Present in the following documents:

• Main text

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Genetic analysis of hyperpolarization-activated cyclic nucleotide-gated cation channels in sudden unexpected death in epilepsy cases.

Brain Pathology (Zurich, Switzerland)

Tu, Emily E; Waterhouse, Louise L; Duflou, Johan J; Bagnall, Richard D RD; Semsarian, Christopher C

Publication Date: 2011-11

Variant appearance in text: HCN2: Arg527Gln

PubMed Link: 21615589

Variant Present in the following documents:

• Main text

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Mutation analysis of the hyperpolarization-activated cyclic nucleotide-gated channels HCN1 and HCN2 in idiopathic generalized epilepsy.

Neurobiology Of Disease

Tang, Bin B; Sander, Thomas T; Craven, Kimberley B KB; Hempelmann, Anne A; Escayg, Andrew A

Publication Date: 2008-01

Variant appearance in text: HCN2: 1580G>A; R527Q

PubMed Link: 17931874

Variant Present in the following documents:

• Main text

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