Status Dystonicus, Oculogyric Crisis and Paroxysmal Dyskinesia in a 25 Year-Old Woman with a Novel Variant, K457E.
Park, Su Mi
Meredith, Andrea L
JournalTremor and Other Hyperkinetic Movements (New York, N.Y.)
PublisherCenter for Digital Research and Scholarship
MetadataShow full item record
AbstractThe diagnosis of a paroxysmal dyskinesia is difficult and status dystonicus is a rare life threatening movement disorder characterised by severe, frequent or continuous episodes of dystonic spasms. A 25 year old woman with chronic ataxia and paroxysmal dyskinesia presented with facial twitching, writhing of arms, oculogyric crisis and visual and auditory hallucinations. She developed respiratory failure and was ventilated. No cause was found so whole exome sequencing was performed and this revealed a novel, non-synonymous heterozygous variant in exon 11 of the KCNMA1 gene, K457E (c 1369A>G) in the patient but not her parents. This variant has not been previously reported in gnomAD or ClinVar. The finding of a de novo variant in a potassium channel gene guided a trial of the potassium channel antagonist 3,4 diaminopyridine resulting in significant improvement, discharge from the intensive care unit and ultimately home.
Rights/TermsCopyright: © 2020 The Author(s).
calcium-activated potassium channel
Identifier to cite or link to this itemhttp://hdl.handle.net/10713/14143
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