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KCNN2 Mutation in Pediatric Tremor Myoclonus Dystonia Syndrome with Electrophysiological Evaluation

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dc.contributor.authorLavenstein, Bennett
dc.contributor.authorMcGurrin, Patrick
dc.contributor.authorAttaripour, Sanaz
dc.contributor.authorVial Undurraga, Felipe
dc.contributor.authorHallett, Mark
dc.date.accessioned2023-12-14T13:27:16Z
dc.date.available2023-12-14T13:27:16Z
dc.date.issued2022
dc.description.abstractBackground: 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 testing revealed an abnormality in the KCNN 2 gene, not present in the parents, known to cause dystonia, as the etiology. Discussion: The value of utilizing noninvasive, electrophysiological recording in pediatric movement disorders expands the precision of diagnosis, potentially informing treatment when correlated with clinical and genetic findings.
dc.description.versionVersión Publicada
dc.identifier.citationLavenstein B, McGurrin P, Attaripour S, Vial F, Hallett M. KCNN2 Mutation in Pediatric Tremor Myoclonus Dystonia Syndrome with Electrophysiological Evaluation. Tremor Other Hyperkinet Mov (N Y). 2022 Jan 24;12:2. doi: 10.5334/tohm.668
dc.identifier.doihttps://doi.org/10.5334/tohm.668
dc.identifier.urihttps://repositorio.udd.cl/handle/11447/8175
dc.language.isoen
dc.subjectGenetics
dc.subjectMyoclonus
dc.subjectPhysiology
dc.titleKCNN2 Mutation in Pediatric Tremor Myoclonus Dystonia Syndrome with Electrophysiological Evaluation
dc.typeArticle
dcterms.accessRightsAcceso Abierto
dcterms.sourceTremor and other hyperkinetic movements
dspace.entity.typePublication
relation.isAuthorOfPublication179d13e5-e6ce-4f28-bcd3-69797750d322
relation.isAuthorOfPublication.latestForDiscovery179d13e5-e6ce-4f28-bcd3-69797750d322

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