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21 results on '"Soh, Ming S."'

2. Atenolol reduces cardiac-mediated mortality in a genetic mouse model of sudden unexpected death in epilepsy

Author

Soh, Ming S., primary, Kuanyshbek, Alibek, additional, Syazwan, Erlina S. Mohamed, additional, Lee, Hian M., additional, McKenzie, Chaseley E., additional, Phillips, A. Marie, additional, Hu, Amanda, additional, Scheffer, Ingrid E., additional, Semsarian, Christopher, additional, Berkovic, Samuel F., additional, and Reid, Christopher A., additional

Published
2023
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11. Loss‐of‐function variants in K v 11.1 cardiac channels as a biomarker for SUDEP

Author

Soh, Ming S., primary, Bagnall, Richard D., additional, Bennett, Mark F., additional, Bleakley, Lauren E., additional, Mohamed Syazwan, Erlina S., additional, Phillips, A. Marie, additional, Chiam, Mathew D. F., additional, McKenzie, Chaseley E., additional, Hildebrand, Michael, additional, Crompton, Douglas, additional, Bahlo, Melanie, additional, Semsarian, Christopher, additional, Scheffer, Ingrid E., additional, Berkovic, Samuel F., additional, and Reid, Christopher A., additional

Published
2021
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12. Cation leak underlies neuronal excitability in an HCN1 developmental and epileptic encephalopathy

Author

Bleakley, Lauren E, primary, McKenzie, Chaseley E, additional, Soh, Ming S, additional, Forster, Ian C, additional, Pinares-Garcia, Paulo, additional, Sedo, Alicia, additional, Kathirvel, Anirudh, additional, Churilov, Leonid, additional, Jancovski, Nikola, additional, Maljevic, Snezana, additional, Berkovic, Samuel F, additional, Scheffer, Ingrid E, additional, Petrou, Steven, additional, Santoro, Bina, additional, and Reid, Christopher A, additional

Published
2021
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13. Loss-of-function variants in the cardiac Kv11.1 channel as a genetic biomarker for SUDEP

Author

Soh, Ming S., primary, Bagnall, Richard D., additional, Bennett, Mark F., additional, Bleakley, Lauren E., additional, Syazwan, Erlina S. Mohamed, additional, Phillips, A. Marie, additional, Chiam, Mathew D.F., additional, McKenzie, Chaseley E., additional, Hildebrand, Michael, additional, Crompton, Douglas, additional, Bahlo, Melanie, additional, Semsarian, Christopher, additional, Scheffer, Ingrid E., additional, Berkovic, Samuel F., additional, and Reid, Christopher A., additional

Published
2021
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16. Loss‐of‐function variants in Kv11.1 cardiac channels as a biomarker for SUDEP.

Author

Soh, Ming S., Bagnall, Richard D., Bennett, Mark F., Bleakley, Lauren E., Mohamed Syazwan, Erlina S., Phillips, A. Marie, Chiam, Mathew D. F., McKenzie, Chaseley E., Hildebrand, Michael, Crompton, Douglas, Bahlo, Melanie, Semsarian, Christopher, Scheffer, Ingrid E., Berkovic, Samuel F., and Reid, Christopher A.

Subjects
*BIOMARKERS, *XENOPUS laevis, *OLDER patients, *GENETIC testing, *PEOPLE with epilepsy
Abstract

Objective: To compare the frequency and impact on the channel function of KCNH2 variants in SUDEP patients with epilepsy controls comprising patients older than 50 years, a group with low SUDEP risk, and establish loss‐of‐function KCNH2 variants as predictive biomarkers of SUDEP risk. Methods: We searched for KCNH2 variants with a minor allele frequency of <5%. Functional analysis in Xenopus laevis oocytes was performed for all KCNH2 variants identified. Results: KCNH2 variants were found in 11.1% (10/90) of SUDEP individuals compared to 6.0% (20/332) of epilepsy controls (p = 0.11). Loss‐of‐function KCNH2 variants, defined as causing >20% reduction in maximal amplitude, were observed in 8.9% (8/90) SUDEP patients compared to 3.3% (11/332) epilepsy controls suggesting about threefold enrichment (nominal p = 0.04). KCNH2 variants that did not change channel function occurred at a similar frequency in SUDEP (2.2%; 2/90) and epilepsy control (2.7%; 9/332) cohorts (p > 0.99). Rare KCNH2 variants (<1% allele frequency) associated with greater loss of function and an ~11‐fold enrichment in the SUDEP cohort (nominal p = 0.03). In silico tools were unable to predict the impact of a variant on function highlighting the need for electrophysiological analysis. Interpretation: These data show that loss‐of‐function KCNH2 variants are enriched in SUDEP patients when compared to an epilepsy population older than 50 years, suggesting that cardiac mechanisms contribute to SUDEP risk. We propose that genetic screening in combination with functional analysis can identify loss‐of‐function KCNH2 variants that could act as biomarkers of an individual's SUDEP risk. [ABSTRACT FROM AUTHOR]

Published
2021
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21. Different fluorescent labels report distinct components of spHCN channel voltage sensor movement.

Author

Wojciechowski MN, McKenzie CE, Hung A, Kuanyshbek A, Soh MS, Reid CA, and Forster IC

Subjects
Animals, Ion Channel Gating physiology, Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels metabolism, Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels genetics, Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels chemistry, Oocytes metabolism, Sea Urchins, Membrane Potentials physiology, Fluorescent Dyes chemistry, Xenopus laevis
Abstract

We used voltage clamp fluorometry to probe the movement of the S4 helix in the voltage-sensing domain of the sea urchin HCN channel (spHCN) expressed in Xenopus oocytes. We obtained markedly different fluorescence responses with either ALEXA-488 or MTS-TAMRA covalently linked to N-terminal Cys332 of the S4 helix. With hyperpolarizing steps, ALEXA-488 fluorescence increased rapidly, consistent with it reporting the initial inward movement of S4, as previously described. In contrast, MTS-TAMRA fluorescence increased more slowly and its early phase correlated with that of channel opening. Additionally, a slow fluorescence component that tracked the development of the mode shift, or channel hysteresis, could be resolved with both labels. We quantitated this component as an increased deactivation tail current delay with concomitantly longer activation periods and found it to depend strongly on the presence of K+ ions in the pore. Using collisional quenching experiments and structural predictions, we established that ALEXA-488 was more exposed to solvent than MTS-TAMRA. We propose that components of S4 movement during channel activation can be kinetically resolved using different fluorescent probes to reveal distinct biophysical properties. Our findings underscore the need to apply caution when interpreting voltage clamp fluorometry data and demonstrate the potential utility of different labels to interrogate distinct biophysical properties of voltage-gated membrane proteins., (© 2024 Wojciechowski et al.)

Published
2024
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