MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia - Reid, Kimberley M.; Spaull, Robert; Salian, Smrithi; Barwick, Katy; Meyer, Esther; Zhen, Juan; Hirata, Hiromi; Sheipouri, Diba; Benkerroum, Hind; Gorman, Kathleen M.; Papandreou, Apostolos; Simpson, Michael A.; et al. (Movement disorders, 2022)
Keywords: Animals; Brief Report; Cataracts; Cell surface; Chorea; Dystonia; Dystonia - diagnosis; Dystonia - genetics; Dystonic Disorders - genetics; Epilepsy; Fibroblasts; Gene mapping; MED27; Movement disorders; Movement Disorders - genetics; MPPE1; Neurodevelopmental disorders; Neurodevelopmental Disorders - genetics; Next-generation sequencing; Phenotypes; Proline; Proline transporter; Regular Issue; RNA; SLC6A7; status dystonicus; Zebrafish - genetics; status dystonicus; SLC6A7; MPPE1; MED27; dystonia