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SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation.
Zaman T, Helbig KL, Clatot J, Thompson CH, Kang SK, Stouffs K, Jansen AE, Verstraete L, Jacquinet A, Parrini E, Guerrini R, Fujiwara Y, Miyatake S, Ben-Zeev B, Bassan H, Reish O, Marom D, Hauser N, Vu TA, Ackermann S, Spencer CE, Lippa N, Srinivasan S, Charzewska A, Hoffman-Zacharska D, Fitzpatrick D, Harrison V, Vasudevan P, Joss S, Pilz DT, Fawcett KA, Helbig I, Matsumoto N, Kearney JA, Fry AE, Goldberg EM. Zaman T, et al. Among authors: goldberg em. Ann Neurol. 2020 Aug;88(2):348-362. doi: 10.1002/ana.25809. Epub 2020 Jul 9. Ann Neurol. 2020. PMID: 32515017 Free PMC article.
A KCNC1-related neurological disorder due to gain of Kv3.1 function.
Clatot J, Ginn N, Costain G, Goldberg EM. Clatot J, et al. Among authors: goldberg em. Ann Clin Transl Neurol. 2023 Jan;10(1):111-117. doi: 10.1002/acn3.51707. Epub 2022 Nov 23. Ann Clin Transl Neurol. 2023. PMID: 36419348 Free PMC article.
Dynamic Fluorescence Imaging in Experimental Epilepsy.
Lawlor PN, Goldberg EM. Lawlor PN, et al. Among authors: goldberg em. Epilepsy Curr. 2022 Jul 20;22(6):364-371. doi: 10.1177/15357597221113436. eCollection 2022 Nov-Dec. Epilepsy Curr. 2022. PMID: 36426179 Free PMC article. Review.
Targeted therapy improves cellular dysfunction, ataxia, and seizure susceptibility in a model of a progressive myoclonus epilepsy.
Feng H, Clatot J, Kaneko K, Flores-Mendez M, Wengert ER, Koutcher C, Hoddeson E, Lopez E, Lee D, Arias L, Liang Q, Zhang X, Somarowthu A, Covarrubias M, Gunthorpe MJ, Large CH, Akizu N, Goldberg EM. Feng H, et al. Among authors: goldberg em. Cell Rep Med. 2024 Feb 20;5(2):101389. doi: 10.1016/j.xcrm.2023.101389. Epub 2024 Jan 23. Cell Rep Med. 2024. PMID: 38266642 Free PMC article.
234 results