Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Lauren E. Bleakley"'
Autor:
Ming S. Soh, Richard D. Bagnall, Mark F. Bennett, Lauren E. Bleakley, Erlina S. Mohamed Syazwan, A. Marie Phillips, Mathew D. F. Chiam, Chaseley E. McKenzie, Michael Hildebrand, Douglas Crompton, Melanie Bahlo, Christopher Semsarian, Ingrid E. Scheffer, Samuel F. Berkovic, Christopher A. Reid
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 7, Pp 1422-1432 (2021)
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 v
Externí odkaz:
https://doaj.org/article/a3cc4ade1c004ddf9b7c1aa827732045
Autor:
Lauren E. Bleakley, Ming S. Soh, Richard D. Bagnall, Lynette G. Sadleir, Samuel Gooley, Christopher Semsarian, Ingrid E. Scheffer, Samuel F. Berkovic, Christopher A. Reid
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
Sudden unexpected death in epilepsy (SUDEP) is the most common cause of premature mortality in individuals with epilepsy. Acute and adaptive changes in heart rhythm in epilepsy implicate cardiac dysfunction as a potential pathogenic mechanism in SUDE
Externí odkaz:
https://doaj.org/article/5be4330ce7214fc981cc37384e3e5349
Autor:
Julia Oyrer, Lauren E. Bleakley, Kay L. Richards, Snezana Maljevic, A. Marie Phillips, Steven Petrou, Cameron J. Nowell, Christopher A. Reid
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 12 (2019)
Hyperpolarization-activated cyclic nucleotide-gated (HCN) channels carry a non-selective cationic conductance, Ih, which is important for modulating neuron excitability. Four genes (HCN1-4) encode HCN channels, with each gene having distinct expressi
Externí odkaz:
https://doaj.org/article/df2a283ccc4545638ae1422d408b2153
Autor:
Da Zhao, Paulo Pinares-Garcia, Chaseley E. McKenzie, Lauren E. Bleakley, Ian C. Forster, Vickie H.Y. Wong, Christine T.O. Nguyen, Ingrid E. Scheffer, Christopher A. Reid, Bang V. Bui
Publikováno v:
The Journal of Neuroscience. 43:2199-2209
Pathogenic variants inHCN1are associated with a range of epilepsy syndromes including a developmental and epileptic encephalopathy. The recurrentde novo HCN1pathogenic variant (M305L) results in a cation leak, allowing the flux of excitatory ions at
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::53837a2b3deed37fe094ec0f9157b2b3
https://doi.org/10.1523/jneurosci.1615-22.2022
https://doi.org/10.1523/jneurosci.1615-22.2022
Autor:
Chaseley E McKenzie, Ian C Forster, Ming S Soh, A Marie Phillips, Lauren E Bleakley, Sophie J Russ-Hall, Kenneth A Myers, Ingrid E Scheffer, Christopher A Reid
Publikováno v:
Brain Communications. 5
Pathogenic variants in HCN1 are an established cause of developmental and epileptic encephalopathy (DEE). To date, the stratification of patients with HCN1-DEE based on the biophysical consequence on channel function of a given variant has not been p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4dd751c20c6593613b2ffed35a11b087
https://doi.org/10.1093/braincomms/fcad156
https://doi.org/10.1093/braincomms/fcad156
Publikováno v:
EpilepsiaREFERENCES.
Acquisition of drug-sensitivity profiles is challenging in rare epilepsies. Anecdotal evidence suggests that antiseizure medications that block sodium channels as their primary mechanism of action exacerbate seizures in HCN1 developmental and epilept
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78ad5aa1d651f0eff395aab18fb1e7d1
https://pubmed.ncbi.nlm.nih.gov/36300716
https://pubmed.ncbi.nlm.nih.gov/36300716
Autor:
Christopher A. Reid, Christopher Semsarian, Samuel F. Berkovic, A. Marie Phillips, Richard D. Bagnall, Lauren E Bleakley, Erlina S Mohamed Syazwan, Mathew D. F. Chiam, Chaseley E McKenzie, Melanie Bahlo, Mark F. Bennett, Douglas E. Crompton, Michael S. Hildebrand, Ingrid E. Scheffer, Ming S Soh
Publikováno v:
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Vol 8, Iss 7, Pp 1422-1432 (2021)
Annals of Clinical and Translational Neurology, Vol 8, Iss 7, Pp 1422-1432 (2021)
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 a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4e7ad6a74773fa9a6bbac9c52b90bb6
http://europepmc.org/articles/PMC8283159
http://europepmc.org/articles/PMC8283159
Autor:
Andreas Ludwig, Lauren E Bleakley, Christopher A. Reid, Liang Jin, Linghan Jia, Emma Morrisroe, Steven Petrou, Joseph A. Nicolazzo, Qays Kharouf, A. Marie Phillips, Julia Oyrer, M. Novella Romanelli, Elisabetta Cerbai
Publikováno v:
Br J Pharmacol
BACKGROUND AND PURPOSE: Hyperpolarization-activated Cyclic Nucleotide-gated (HCN) channels are encoded by four genes (HCN1-4) with distinct biophysical properties and functions within the brain. HCN4 channels activate slowly at robust hyperpolarizing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5af13ee1769628118035e86541561def
https://doi.org/10.1111/bph.15088
https://doi.org/10.1111/bph.15088
Autor:
Lauren E. Bleakley, Ryan J. Keenan, Rachel D. Graven, Jeremy A. Metha, Sherie Ma, Heather Daykin, Linda Cornthwaite-Duncan, Daniel Hoyer, Christopher A. Reid, Laura H. Jacobson
Publikováno v:
Behavioural Brain Research. 437:114105
Sleep is a complex biological state characterized by large populations of neurons firing in a rhythmic or synchronized manner. HCN channels play a critical role in generating and sustaining synchronized neuronal firing and are involved in the actions
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5eed0a5de4c617215d4f3837ff0d3ab7
https://doi.org/10.1016/j.bbr.2022.114105
https://doi.org/10.1016/j.bbr.2022.114105
Autor:
Phillips Am, Melanie Bahlo, Lauren E Bleakley, Chaseley E McKenzie, Christopher Semsarian, Syazwan Esm, Ingrid E. Scheffer, Richard D. Bagnall, Chiam, Douglas E. Crompton, Ming S Soh, Michael S. Hildebrand, Christopher A. Reid, Mark F. Bennett, Samuel F. Berkovic
ObjectiveTo compare the frequency and impact on 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 predict
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c19bf364e518d0255f1cc2f71d740773
https://doi.org/10.1101/2021.03.19.436102
https://doi.org/10.1101/2021.03.19.436102
