Abstract
Abstract GRIN (glutamate ionotropic receptor N-methyl-d-aspartate)-related disorders are a group of rare developmental and epileptic encephalopathies. It is characterized by developmental delay or intellectual disability, epilepsy, muscular hypotonia, movement disorders, spasticity, feeding difficulties, and behavior abnormalities. These are caused by mutations affecting GRIN genes (mostly GRIN1, GRIN2A, and GRIN2B genes). We are presenting a 3-year-old girl who came with paroxysmal dyskinesia, developmental delay, and regression along with speech delay. Clinical exome sequencing showed GRIN1-related hyperkinetic and neurodevelopmental disorders. We are presenting a case with unexplained dyskinesia with GRIN1 mutation.
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