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Epilepsia|January 5, 2026
Memantine treatment in individuals with GRIN gain-of-function variants is associated with improvements in behavior, development, and seizure frequencyMaike Karnstedt, Riley E Perszyk, Scott J Myers, et al.Med (New York, N.Y.)|March 5, 2025
Results from the phase 2/3 DAFFODIL study of trofinetide in girls aged 2-4 years with Rett syndromeAlan K Percy, Robin Ryther, Eric D Marsh, et al.Brain Communications|August 17, 2022
Electrophysiological biomarkers of brain function in CDKL5 deficiency disorderJoni N Saby, Patrick J Mulcahey, Alexis E Zavez, et al.Journal of Neurodevelopmental Disorders|September 17, 2021
Current neurologic treatment and emerging therapies in CDKL5 deficiency disorderHeather E Olson, Carolyn I Daniels, Isabel Haviland, et al.Journal of Neurodevelopmental Disorders|May 15, 2022
Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history studyCaroline B Buchanan, Jennifer L Stallworth, Aubin E Joy, et al.American Journal of Medical Genetics. Part A|August 29, 2024
Deletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorderIsabel Haviland, Ralph D Hector, Lindsay C Swanson, et al.Cellular and Molecular Life Sciences : CMLS|November 3, 2023
Clinical and functional consequences of GRIA variants in patients with neurological diseasesWenshu XiangWei, Riley E Perszyk, Nana Liu, et al.Cellular and Molecular Life Sciences : CMLS|March 28, 2024
De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptorYuchen Xu, Rui Song, Riley E Perszyk, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 2, 2020
Automated syndrome diagnosis by three-dimensional facial imagingBenedikt Hallgrímsson, J David Aponte, David C Katz, et al.Pageof 5