Open Access
Issue |
E3S Web Conf.
Volume 218, 2020
2020 International Symposium on Energy, Environmental Science and Engineering (ISEESE 2020)
|
|
---|---|---|
Article Number | 03013 | |
Number of page(s) | 5 | |
Section | Environmental Chemistry and Environmental Pollution Analysis and Control | |
DOI | https://doi.org/10.1051/e3sconf/202021803013 | |
Published online | 11 December 2020 |
- Mulley JC, Scheffer IE, Petrou S, Dibbens LM, Berkovic SF, Harkin LA. SCN1A mutations and epilepsy. Hum Mutat. 2005; 25(6):535-542. [CrossRef] [PubMed] [Google Scholar]
- Escayg A, MacDonald BT, Meisler MH, Baulac S, Huberfeld G, An‐Gourfinkel I, Brice A, LeGuern E, Moulard B, Chaigne D, Buresi C & Malafosse A (2000). Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat Genet 24, 343–345. [CrossRef] [Google Scholar]
- Claes L, Del‐Favero J, Ceulemans B, Lagae L, Van Broeckhoven C & De Jonghe P (2001). De novo mutations in the sodium ‐ channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet 68, 1327–1332. [CrossRef] [PubMed] [Google Scholar]
- Miriam H. Meisler, Jennifer A. Kearney[J]. Sodium channel mutations in epilepsy and other neurological disorders. 2005; 115(8):2010-2017. [Google Scholar]
- Andrew Escayg, Armin Heils, Bryan T. MacDonald, Karsten Haug, Thomas Sander, Miriam H. Meisler, A Novel SCN1A Mutation Associated with Generalized Epilepsy with Febrile Seizures Plus—and Prevalence of Variants in Patients with Epilepsy, The American Journal of Human Genetics, Volume 68, Issue 4, 2001, Pages 866-873, ISSN 0002-9297. [CrossRef] [Google Scholar]
- Miriam H. Meisler, Janelle E. O’Brien, Lisa M. Sharkey, Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects, Journal of Physiology, Volume 588, Issue 11, June 2010, Pages 1841-1848. [CrossRef] [Google Scholar]
- Martin MS, Dutt K, Papale LA, Dube CM, Dutton SB, De Haan G, Shankar A, Tufik S, Meisler MH, Baram TZ, Goldin AL & Escayg A (2010). Altered function of the SCN1A voltagegated sodium channel leads to GABAergic interneuron abnormalities. J Biol Chem 285, 9823–2834. [CrossRef] [PubMed] [Google Scholar]
- Xu Haiqing, Cai Xiuqu, Yu Lu, Wang Jie, Liao Weiping, Shi Yiwu, Gao Meimei, Tang Bin. Effects of a truncation mutation in Dravet syndrome-associated NaV1.1 (F1237fsX1269) on the expression and function of sodium channel membrane proteins [J]. Chinese Journal of Neuromedicine|Chin J Neuromed, 2015, 14(12):1266-1270. [Google Scholar]
- Liu Jingxin. Effects of Nav1.1 mutations in neurons of pluripotent stem cell origin induced in epileptic patients and their pathogenesis [D]. University of Science and Technology of China, 2016. [Google Scholar]
- Kang JQ & Macdonald RL (2009). Making sense of nonsense GABAA receptor mutations associated with genetic epilepsies. Trends Mol Med 15, 430–438. [CrossRef] [PubMed] [Google Scholar]
- Nancy Osorio, Laurence Cathala, Miriam H. Meisler, Marcel Crest, Jacopo Magistretti, Patrick Delmas, Persistent Nav 1.6 current at axon initial segments tunes spike timing of cerebellar granule cells, February 2010, Volume 588, Issue 4, Pages 651-670 [Google Scholar]
- Brennan, Gary P Baram, Tallie Z Poolos, Nicholas P, Hyperpolarization-Activated Cyclic NucleotideGated (HCN) Channels in Epilepsy., Cold Spring Harbor perspectives in medicine, 6(3), 2016. [Google Scholar]
- Brewster AL, Chen Y, Bender RA, Yeh A, Shigemot O R, Baram TZ. 2007. Quantitative analysis and subcellular distribution of mRNA and protein expression of the hyperpolarization-activated cyclic nucleotide-gated channels throughout development in rat hippocampus. Cereb Cortex 17: 702–712. [CrossRef] [PubMed] [Google Scholar]
- Yoav Noam, Christophe Bernard, Tallie Z Baram, Towards an integrated view of HCN channel role in epilepsy, Current Opinion in Neurobiology, Volume 21, Issue 6, 2011, Pages 873-879, ISSN 0959-4388. [CrossRef] [PubMed] [Google Scholar]
- Foote, Kendall M Lyman, Kyle A Han, Ye Michailidis, Ioannis E Heuermann, Robert J Mandikian, Danielle Trimmer, James S Swanson, Geoffrey T Chetkovich, Dane M, Phosphorylation of the HCN channel auxiliary subunit TRIP8b is altered in an animal model of temporal lobe epilepsy and modulates channel function. The Journal of biological chemistry, 294(43), 2019. [Google Scholar]
- Biel M, Wahl-Schott C, Michalakis S, Zong X. Hyperpolarization-activated cation channels: from genes to function. Physiol Rev. 2009;89:847–885. A comprehensive review of HCN channel structure, function and regulation. [Google Scholar]
- Robinson RB, Siegelbaum SA. Hyper polarization activated cation currents: from molecules to physiological function. Annual Review of Physiology. 2003; 65: 453–480. [CrossRef] [PubMed] [Google Scholar]
- Chia-Hsueh Lee, Roderick MacKinnon, Voltage Sensor Movements during Hyperpolarization in the HCN Channel, Cell, Volume 179, Issue 7, 2019, Pages 1582-1589.e7, ISSN 0092-8674 [CrossRef] [PubMed] [Google Scholar]
- Niday Z, Tzingounis AV. Potassium Channel Gain of Function in Epilepsy: An Unresolved Paradox. The Neuroscientist: a Review Journal Bringing Neurobiology, Neurology and Psychiatry. 2018 Aug;24(4):368-380. [Google Scholar]
- Valerie C. Bomben, Isamu Aiba, Jing Qian, Melanie D. Mark, Stefan Herlitze and Jeffrey L. Noebels, Isolated P/Q Calcium Channel Deletion in Layer VI Corticothalamic Neurons Generates Absence Epilepsy, Journal of Neuroscience 13 January 2016, 36 (2) 405-418. [CrossRef] [Google Scholar]
Current usage metrics show cumulative count of Article Views (full-text article views including HTML views, PDF and ePub downloads, according to the available data) and Abstracts Views on Vision4Press platform.
Data correspond to usage on the plateform after 2015. The current usage metrics is available 48-96 hours after online publication and is updated daily on week days.
Initial download of the metrics may take a while.