Associated Papers
Aberrant HCN4 channel expression: Impacts on neuronal excitability and implications for epilepsy pathogenesis.
Spyrou J et al.
British Journal of Pharmacology, 2025
Diverse monogenic subforms of human spermatogenic failure.
Nagirnaja L et al.
Nature Communications, 2022
36572685 (PubMed )
Supplement: 41467_2022_35661_MOESM3_ESM.xlsx › Supplementary_Data_1
Whole-exome sequencing of a Saudi epilepsy cohort reveals association signals in known and potentially novel loci.
Al Anazi AH et al.
Human Genomics, 2022
36539902 (PubMed )
Supplement: 40246_2022_444_MOESM2_ESM.xlsx › Epilepsy_Uncertain_variants
Cardiac and neuronal HCN channelopathies.
Rivolta I et al.
Pflugers Archiv : European Journal of Physiology, 2020
HCN ion channels and accessory proteins in epilepsy: genetic analysis of a large cohort of patients and review of the literature.
DiFrancesco JC et al.
Epilepsy Research, 2019
PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.
Mlakar V et al.
Journal of Experimental & Clinical Cancer Research : Cr, 2019
30755224 (PubMed )
Supplement: 13046_2019_1066_MOESM1_ESM.xlsx › SK-N-SH
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
29970176 (PubMed )
Supplement: 40246_2018_167_MOESM2_ESM.xlsx › individual
A recurrent de novo missense mutation in UBTF causes developmental neuroregression.
Toro C et al.
Human Molecular Genetics, 2018
29300972 (PubMed )
Supplement: supplementary_material_ddx435.pdf
Functional variants in HCN4 and CACNA1H may contribute to genetic generalized epilepsy.
Becker F et al.
Epilepsia Open, 2017
Targeted Next-Generation Sequencing of 51 Genes Involved in Primary Electrical Disease.
Proost D et al.
The Journal of Molecular Diagnostics : Jmd, 2017
Reply: A Distinct Cardiomyopathy: HCN4 Syndrome Comprising Myocardial Noncompaction, Bradycardia, Mitral Valve Defects, and Aortic Dilation.
Arbustini E et al.
Journal of the American College of Cardiology, 2017
Recurrent ventricular fibrillation in a young female carrying a previously unidentified RyR2 gene mutation.
Kron J et al.
International Journal of Cardiology, 2015
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