Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Chaseley E. McKenzie"'
Autor:
Paulo Pinares-Garcia, James Spyrou, Chaseley E. McKenzie, Ian C. Forster, Ming S. Soh, Erlina Mohamed Syazwan, Mohammed Atif, Christopher A. Reid
Publikováno v:
Frontiers in Pharmacology, Vol 14 (2023)
Changes in Hyperpolarization-Activated Cyclic Nucleotide-Gated (HCN) channel function have been linked to depressive-like traits, making them potential drug targets. However, there is currently no peer-reviewed data supporting the use of a small mole
Externí odkaz:
https://doaj.org/article/aa5cc88cc33c4b32b0f7f64ecf6c597e
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:
Chaseley E. Mckenzie, Chen-Jui Ho, Ian C. Forster, Ming S. Soh, A. Marie Phillips, Ying-Chao Chang, Ingrid E. Scheffer, Christopher A. Reid, Meng-Han Tsai
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
Variants in HCN1 are associated with a range of epilepsy syndromes including developmental and epileptic encephalopathies. Here we describe a child harboring a novel de novo HCN1 variant, E246A, in a child with epilepsy and mild developmental delay.
Externí odkaz:
https://doaj.org/article/33a3627bc73b425e920ad245f5a1fbc4
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:
Ian C. Forster, Christopher A. Reid, Géza Berecki, Steven Petrou, Andrew Hung, Chaseley E McKenzie, Ming S Soh, Anirudh Kathirvel
Publikováno v:
Progress in Biophysics and Molecular Biology. 166:156-172
Hyperpolarization-gated, cyclic nucleotide-activated (HCN1-4) channels are inwardly rectifying cation channels that display voltage dependent activation and de-activation. Pathogenic variants in HCN1 are associated with severe developmental and epile
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ca4782da05f5d0fec74ec4f46af8451
https://doi.org/10.1016/j.pbiomolbio.2021.07.005
https://doi.org/10.1016/j.pbiomolbio.2021.07.005
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:
Chaseley E, Mckenzie, Chen-Jui, Ho, Ian C, Forster, Ming S, Soh, A Marie, Phillips, Ying-Chao, Chang, Ingrid E, Scheffer, Christopher A, Reid, Meng-Han, Tsai
Publikováno v:
Frontiers in neurology. 13
Variants in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::df5aff3d90dc3324074771f687d88489
https://pubmed.ncbi.nlm.nih.gov/35359652
https://pubmed.ncbi.nlm.nih.gov/35359652
Autor:
Andrew Hung, Ian C. Forster, Chaseley E. Mckenzie, Geza Berecki, Steven Petrou, Anirudh Kathirvel, Ming S. Soh, Christopher A. Reid
Publikováno v:
Progress in Biophysics and Molecular Biology. 172:90
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::223ec94022c134ad2142143d096b07dd
https://doi.org/10.1016/j.pbiomolbio.2022.05.003
https://doi.org/10.1016/j.pbiomolbio.2022.05.003