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Biological concepts in human sodium channel epilepsies and their relevance in clinical practice.
Brunklaus A, Du J, Steckler F, Ghanty II, Johannesen KM, Fenger CD, Schorge S, Baez-Nieto D, Wang HR, Allen A, Pan JQ, Lerche H, Heyne H, Symonds JD, Zuberi SM, Sanders S, Sheidley BR, Craiu D, Olson HE, Weckhuysen S, DeJonge P, Helbig I, Van Esch H, Busa T, Milh M, Isidor B, Depienne C, Poduri A, Campbell AJ, Dimidschstein J, Møller RS, Lal D. Brunklaus A, et al. Among authors: pan jq. Epilepsia. 2020 Mar;61(3):387-399. doi: 10.1111/epi.16438. Epub 2020 Feb 23. Epilepsia. 2020. PMID: 32090326
Tracks through the genome to physiological events.
Lipscombe D, Pan JQ, Schorge S. Lipscombe D, et al. Among authors: pan jq. Exp Physiol. 2015 Dec;100(12):1429-40. doi: 10.1113/EP085129. Epub 2015 Jul 19. Exp Physiol. 2015. PMID: 26053180 Free PMC article. Review.
Effects of a patient-derived de novo coding alteration of CACNA1I in mice connect a schizophrenia risk gene with sleep spindle deficits.
Ghoshal A, Uygun DS, Yang L, McNally JM, Lopez-Huerta VG, Arias-Garcia MA, Baez-Nieto D, Allen A, Fitzgerald M, Choi S, Zhang Q, Hope JM, Yan K, Mao X, Nicholson TB, Imaizumi K, Fu Z, Feng G, Brown RE, Strecker RE, Purcell SM, Pan JQ. Ghoshal A, et al. Among authors: pan jq. Transl Psychiatry. 2020 Jan 23;10(1):29. doi: 10.1038/s41398-020-0685-1. Transl Psychiatry. 2020. PMID: 32066662 Free PMC article.
Predicting functional effects of missense variants in voltage-gated sodium and calcium channels.
Heyne HO, Baez-Nieto D, Iqbal S, Palmer DS, Brunklaus A, May P; Epi25 Collaborative; Johannesen KM, Lauxmann S, Lemke JR, Møller RS, Pérez-Palma E, Scholl UI, Syrbe S, Lerche H, Lal D, Campbell AJ, Wang HR, Pan J, Daly MJ. Heyne HO, et al. Sci Transl Med. 2020 Aug 12;12(556):eaay6848. doi: 10.1126/scitranslmed.aay6848. Sci Transl Med. 2020. PMID: 32801145
Novel Fluorescence-Based High-Throughput FLIPR Assay Utilizing Membrane-Tethered Genetic Calcium Sensors to Identify T-Type Calcium Channel Modulators.
Zhang YL, Moran SP, Allen A, Baez-Nieto D, Xu Q, Wang LA, Martenis WE, Sacher JR, Gale JP, Weïwer M, Wagner FF, Pan JQ. Zhang YL, et al. Among authors: pan jq. ACS Pharmacol Transl Sci. 2022 Feb 25;5(3):156-168. doi: 10.1021/acsptsci.1c00233. eCollection 2022 Mar 11. ACS Pharmacol Transl Sci. 2022. PMID: 35311021 Free PMC article.
136 results