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Pujol-Giménez, Jonai; Mirzaa, Ghayda; Blue, Elizabeth E; Albano, Giuseppe; Miller, Danny E; Allworth, Aimee; Bennett, James T; Byers, Peter H; Chanprasert, Sirisak; Chen, Jingheng; Doherty, Daniel; Folta, Andrew B; Gillentine, Madelyn A; Glass, Ian; Hing, Anne; Horike-Pyne, Martha; Leppig, Kathleen A; Parhin, Azma; Ranchalis, Jane; Raskind, Wendy H; ... (2023). Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome. Annals of Clinical and Translational Neurology, 10(6), pp. 1046-1053. Wiley 10.1002/acn3.51786
Stergachis, Andrew B; Pujol Gimenez, Jonai; Gyimesi, Gergely; Fuster, Daniel Guido; Albano, Giuseppe; Troxler, Marina; Picker, Jonathan; Rosenberg, Paul A; Bergin, Ann; Peters, Jurriaan; Moufawad El Achkar, Christelle; Harini, Chellamani; Manzi, Shannon; Rotenberg, Alexander; Hediger, Matthias A.; Rodan, Lance H (2019). Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanism. Annals of neurology, 85(6), pp. 921-926. Wiley-Blackwell 10.1002/ana.25477
