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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.
Effect of Intensive Blood-Pressure Treatment on Patient-Reported Outcomes.
Berlowitz DR, Foy CG, Kazis LE, Bolin LP, Conroy MB, Fitzpatrick P, Gure TR, Kimmel PL, Kirchner K, Morisky DE, Newman J, Olney C, Oparil S, Pajewski NM, Powell J, Ramsey T, Simmons DL, Snyder J, Supiano MA, Weiner DE, Whittle J; SPRINT Research Group. Berlowitz DR, et al. N Engl J Med. 2017 Aug 24;377(8):733-744. doi: 10.1056/NEJMoa1611179. N Engl J Med. 2017. PMID: 28834483 Free PMC article. Clinical Trial.