Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanism.
Stergachis AB, Pujol-Giménez J, Gyimesi G, Fuster D, Albano G, Troxler M, Picker J, Rosenberg PA, Bergin A, Peters J, El Achkar CM, Harini C, Manzi S, Rotenberg A, Hediger MA, Rodan LH.
Stergachis AB, et al.
Ann Neurol. 2019 Jun;85(6):921-926. doi: 10.1002/ana.25477. Epub 2019 Apr 26.
Ann Neurol. 2019.
PMID: 30937933
Free PMC article.