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Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome.
Tayebi N, Leon-Ricardo B, McCall K, Mehinovic E, Engelstad K, Huynh V, Turner TN, Weisenberg J, Thio LL, Hruz P, Williams RSB, De Vivo DC, Petit V, Haller G, Gurnett CA. Tayebi N, et al. Among authors: weisenberg j. Ann Clin Transl Neurol. 2023 May;10(5):787-801. doi: 10.1002/acn3.51767. Epub 2023 Mar 31. Ann Clin Transl Neurol. 2023. PMID: 37000947 Free PMC article.
Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial.
Knight EMP, Amin S, Bahi-Buisson N, Benke TA, Cross JH, Demarest ST, Olson HE, Specchio N, Fleming TR, Aimetti AA, Gasior M, Devinsky O; Marigold Trial Group. Knight EMP, et al. Lancet Neurol. 2022 May;21(5):417-427. doi: 10.1016/S1474-4422(22)00077-1. Lancet Neurol. 2022. PMID: 35429480 Clinical Trial.
Later onset focal epilepsy with roots in childhood: Evidence from early learning difficulty and brain volumes in the Human Epilepsy Project.
Pellinen J, Pardoe H, Sillau S, Barnard S, French J, Knowlton R, Lowenstein D, Cascino GD, Glynn S, Jackson G, Szaflarski J, Morrison C, Meador KJ, Kuzniecky R; Human Epilepsy Project Investigators. Pellinen J, et al. Epilepsia. 2023 Oct;64(10):2761-2770. doi: 10.1111/epi.17727. Epub 2023 Aug 4. Epilepsia. 2023. PMID: 37517050
Epileptic spasms in CDKL5 deficiency disorder: Delayed treatment and poor response to first-line therapies.
Olson HE, Demarest S, Pestana-Knight E, Moosa AN, Zhang X, Pérez-Pérez JR, Weisenberg J, O'Connor Prange E, Marsh ED, Rajaraman RR, Suter B, Katyayan A, Haviland I, Daniels C, Zhang B, Greene C, DeLeo M, Swanson L, Love-Nichols J, Benke T, Harini C, Poduri A. Olson HE, et al. Among authors: weisenberg j. Epilepsia. 2023 Jul;64(7):1821-1832. doi: 10.1111/epi.17630. Epub 2023 May 15. Epilepsia. 2023. PMID: 37114835
The Heart of Rett Syndrome: A Quantitative Analysis of Cardiac Repolarization.
Collins MP, Johnson MC, Ryther RC, Weisenberg JL, Heydemann PT, Buhrfiend CM, Scott WA, Armstrong DMM, Kern HM, Nguyen HH. Collins MP, et al. Among authors: weisenberg jl. Cardiol Res. 2023 Dec;14(6):446-452. doi: 10.14740/cr1580. Epub 2023 Nov 3. Cardiol Res. 2023. PMID: 38187509 Free PMC article.
The development, content and response process validation of a caregiver-reported severity measure for CDKL5 deficiency disorder.
Ziniel SI, Mackie A, Saldaris J, Leonard H, Jacoby P, Marsh ED, Suter B, Pestana-Knight E, Olson HE, Price D, Weisenberg J, Rajaraman R, VanderVeen G, Benke TA, Downs J, Demarest S. Ziniel SI, et al. Among authors: weisenberg j. Epilepsy Res. 2023 Nov;197:107231. doi: 10.1016/j.eplepsyres.2023.107231. Epub 2023 Sep 20. Epilepsy Res. 2023. PMID: 37751639 Free PMC article.
47 results