Age-dependent neurological phenotypes in a mouse model of PRRT2-related diseases

Autor: Louis J. Ptáček, Im C, Voglmaier Sm, Fu Y-H, Nelson A, Thomas A. McMahon, Niesner Kj, Alex J. Fay, Bair-Marshall C, Li H

Publikováno v: Neurogenetics

Paroxysmal kinesigenic dyskinesia is an episodic movement disorder caused by dominant mutations in the proline-rich transmembrane protein PRRT2, with onset in childhood and typically with improvement or resolution by middle age. Mutations in the same

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b0fc07009b76169fc05586ea7ff0a44
https://pubmed.ncbi.nlm.nih.gov/34101060

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Overcoming presynaptic effects of VAMP2 mutations with 4-aminopyridine treatment.

Autor: Simmons RL; Department of Neurology, Weill Institute for Neurosciences and Institute of Human Genetics, School of Medicine, University of California, San Francisco, San Francisco, California, USA., Li H; Department of Psychiatry, Weill Institute for Neurosciences and Kavli Institute for Fundamental Neuroscience, School of Medicine, University of California, San Francisco, San Francisco, California, USA., Alten B; Department of Pharmacology and Vanderbilt Brain Institute, Vanderbilt University, Nashville, Tennessee, USA., Santos MS; Department of Psychiatry, Weill Institute for Neurosciences and Kavli Institute for Fundamental Neuroscience, School of Medicine, University of California, San Francisco, San Francisco, California, USA., Jiang R; Department of Neurology, Weill Institute for Neurosciences and Institute of Human Genetics, School of Medicine, University of California, San Francisco, San Francisco, California, USA., Paul B; Department of Neurology, Weill Institute for Neurosciences and Institute of Human Genetics, School of Medicine, University of California, San Francisco, San Francisco, California, USA., Lalani SJ; Department of Neurology, Weill Institute for Neurosciences and Institute of Human Genetics, School of Medicine, University of California, San Francisco, San Francisco, California, USA., Cortesi A; Department of Neurology, Weill Institute for Neurosciences and Institute of Human Genetics, School of Medicine, University of California, San Francisco, San Francisco, California, USA., Parks K; Department of Neurology, Weill Institute for Neurosciences and Institute of Human Genetics, School of Medicine, University of California, San Francisco, San Francisco, California, USA., Khandelwal N; Department of Neuroscience, UT Southwestern Medical Center, Dallas, Texas, USA., Smith-Packard B; Department of Pediatrics, Penn State Health Pediatric Specialties, Hershey, Pennsylvania, USA., Phoong MA; Division of Neuroscience, Department of Pediatric Neuropsychology, Sutter Medical Foundation, Sacramento, California, USA., Chez M; Neuroscience Medical Group, Sutter Medical Foundation, Sacramento, California, USA., Fisher H; Department of Genetics, Children's Medical Center of Texas, Dallas, Texas, USA., Scheuerle AE; Division of Genetics and Metabolism, Department of Pediatrics, UT Southwestern Medical Center, Dallas, Texas, USA., Shinawi M; Division of Genetics and Genomic Medicine, St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, Missouri, USA., Hussain SA; Department of Pediatrics, UCLA Mattel Children's Hospital and Geffen School of Medicine, Los Angeles, California, USA., Kavalali ET; Department of Pharmacology and Vanderbilt Brain Institute, Vanderbilt University, Nashville, Tennessee, USA., Sherr EH; Department of Neurology, Weill Institute for Neurosciences and Institute of Human Genetics, School of Medicine, University of California, San Francisco, San Francisco, California, USA., Voglmaier SM; Department of Psychiatry, Weill Institute for Neurosciences and Kavli Institute for Fundamental Neuroscience, School of Medicine, University of California, San Francisco, San Francisco, California, USA.

Publikováno v: Human mutation [Hum Mutat] 2020 Nov; Vol. 41 (11), pp. 1999-2011. Date of Electronic Publication: 2020 Oct 01.