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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|February 12, 2021
A novel ATP1A2 variant associated with severe stepwise regression, hemiplegia, epilepsy and movement disorders in two unrelated patientsDaniel G Calame, Kimberly Houck, Timothy Lotze, et al.Journal of Clinical Psychology|December 8, 2025
Examining Sleep-Related Problems in Youth With MisophoniaKevin M Wagner, Matti Cervin, Catherine E Rast, et al.Tremor and Other Hyperkinetic Movements (New York, N.Y.)|June 23, 2025
Real-World Experiences with VMAT2 Inhibitors in Pediatric Hyperkinetic Movement DisordersSujal Manohar, Jennifer Jacobe, Rebecca Berger, et al.European Journal of Medical Genetics|August 25, 2018
Novel deletion of 6p21.31p21.1 associated with laryngeal cleft, developmental delay, dysmorphic features and vascular anomalyNishitha R Pillai, Dana Marafi, Sonia A Monteiro, et al.Frontiers in Cell and Developmental Biology|November 2, 2020
An SCN1B Variant Affects Both Cardiac-Type (NaV1.5) and Brain-Type (NaV1.1) Sodium Currents and Contributes to Complex Concomitant Brain and Cardiac DisordersRebecca Martinez-Moreno, Elisabet Selga, Helena Riuró, et al.Genes|October 28, 2023
Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive Myoclonus EpilepsyLea Hentrich, Mered Parnes, Timothy Edward Lotze, et al.Journal of Inherited Metabolic Disease|February 22, 2026
Pharmacodynamics, Efficacy, and Safety of Intraputaminal Eladocagene Exuparvovec Administered to Pediatric Patients With Aromatic L-Amino Acid Decarboxylase Deficiency Using an MR-Compatible Cannula: 48 Weeks of Follow-UpDaniel J Curry, Phillip L Pearl, Scellig S D Stone, et al.Dystonia (Lausanne, Switzerland)|January 26, 2024
Function and dysfunction of the dystonia network: an exploration of neural circuits that underlie the acquired and isolated dystoniasJason S Gill, Megan X Nguyen, Mariam Hull, et al.Biorxiv : the Preprint Server for Biology|April 10, 2026
Human and mouse cerebellar inhibitory circuits in dystonic crisis and their modulation with therapeutic stimulationAlejandro G Rey Hipolito, Michael P Dew, Jason S Gill, et al.Movement Disorders : Official Journal of the Movement Disorder Society|June 20, 2022
Highlighting the Dystonic Phenotype Related to GNAO1Thomas Wirth, Giacomo Garone, Manju A Kurian, et al.Pageof 3