Altered neurological and neurobehavioral phenotypes in a mouse model of the recurrent KCNB1-p.R306C voltage-sensor variant

Autor: Kang, Seok Kyu, Hawkins, Nicole A., Thompson, Christopher H., Baker, Erin M., Echevarria-Cooper, Dennis M., Barse, Levi, Thenstedt, Tyler, Dixon, Conor J., Speakes, Nathan, George, Alfred L., Jr, Kearney, Jennifer A.

Publikováno v: In Neurobiology of Disease May 2024 194

Rare dysfunctional SCN2A variants are associated with malformation of cortical development.

Autor: Clatot, Jérôme^1,2 (AUTHOR), Thompson, Christopher H.³ (AUTHOR), Sotardi, Susan⁴ (AUTHOR), Jiang, Jinan⁵ (AUTHOR), Trivisano, Marina⁶ (AUTHOR), Balestrini, Simona^7,8 (AUTHOR), Ward, D. Isum⁹ (AUTHOR), Ginn, Natalie^1,2 (AUTHOR), Guaragni, Brunetta¹⁰ (AUTHOR), Malerba, Laura¹¹ (AUTHOR), Vakrinou, Angeliki¹² (AUTHOR), Sherer, Mia¹³ (AUTHOR), Helbig, Ingo^1,2,14,15 (AUTHOR), Somarowthu, Ala¹ (AUTHOR), Sisodiya, Sanjay M.¹² (AUTHOR), Ben‐Shalom, Roy¹⁶ (AUTHOR), Guerrini, Renzo^7,8 (AUTHOR), Specchio, Nicola⁶ (AUTHOR), George, Alfred L. Jr³ (AUTHOR), Goldberg, Ethan M.^1,2,15,16 (AUTHOR) goldberge@chop.edu

Publikováno v: Epilepsia (Series 4). Dec2024, p1. 15p. 5 Illustrations, 1 Chart.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Cryptic prokaryotic promoters explain instability of recombinant neuronal sodium channels in bacteria

Autor: DeKeyser, Jean-Marc, Thompson, Christopher H., George, Alfred L., Jr.

Publikováno v: In Journal of Biological Chemistry January-June 2021 296

Direct evidence of impaired neuronal Na/K-ATPase pump function in alternating hemiplegia of childhood

Autor: Simmons, Christine Q., Thompson, Christopher H., Cawthon, Bryan E., Westlake, Grant, Swoboda, Kathryn J., Kiskinis, Evangelos, Ess, Kevin C., George, Alfred L., Jr

Publikováno v: In Neurobiology of Disease July 2018 115:29-38