Article
KCNN2 Mutation in Pediatric Tremor Myoclonus Dystonia Syndrome with Electrophysiological Evaluation.
Tremor and other hyperkinetic movements (New York, N.Y.) - 1 Jan 2022
Lavenstein Bennett, McGurrin Patrick, Attaripour Sanaz, Vial Felipe, Hallett Mark
Abstract excerpt
BACKGROUND: Here we combine clinical, electrophysiological, and genetic findings to phenotype an unusual childhood movement disorder in a patient with a rare form of KCNN2 mutation. CASE REPORT: A 10-year-old male presented with a clinical syndrome of tremor and myoclonus. Electrophysiology demonstrated muscle activity indicative of myoclonus dystonia, an observation that was not appreciated clinically. Genetic...
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