EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia - Kuipers, Demy J. S.; Mandemakers, Wim; Lu, Chin‐Song; Olgiati, Simone; Breedveld, Guido J.; Fevga, Christina; Tadic, Vera; Carecchio, Miryam; Osterman, Bradley; Sagi‐Dain, Lena; Wu‐Chou, Yah‐Huei; Chen, Chiung C.; et al. (Annals of neurology, 2021)
Keywords: Adolescent; Adult; Age of Onset; Asian Continental Ancestry Group; Brain - diagnostic imaging; Cellular stress response; Child; Child, Preschool; Dystonia; Dystonic Disorders - genetics; Dystonic Disorders - metabolism; Dystonic Disorders - physiopathology; eIF-2 kinase; eIF-2 Kinase - genetics; eIF-2 Kinase - metabolism; European Continental Ancestry Group; Female; Fibroblasts; Fibroblasts - metabolism; Genome-Wide Association Study; Genomes; Humans; Infant; Initiation factor eIF-2; Intellectual disabilities; Interferon; Kinases; Linkage analysis; Magnetic Resonance Imaging; Male; Middle Aged; Mutation, Missense; Neuroimaging; Pathogenesis; Patients; Pedigree; Phosphorylation; Protein kinase R; Proteins; Ribonucleic acid; RNA; Spasticity; Whole Exome Sequencing; Young Adult