Status Dystonicus, Oculogyric Crisis and Paroxysmal Dyskinesia in a 25 Year-Old Woman with a Novel KCNMA1 Variant, K457E
| Autor: | Timothy Lynch, Tudor Munteanu, Jennifer Williams, Su Mi Park, Andrea L. Meredith, Cliona Buckley, Mary D. King |
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| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Pediatrics
medicine.medical_specialty Ataxia Movement disorders Oculogyric crisis Case Report calcium-activated potassium channel Neurological Emergency medicine Genetics BK channel Exome sequencing Dystonia Dyskinesia business.industry PNKD3 Paroxysmal dyskinesia medicine.disease Status dystonicus Seizure medicine.symptom KCa1.1 business |
| Zdroj: | Tremor and Other Hyperkinetic Movements |
| ISSN: | 2160-8288 |
| Popis: | The 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. |
| Databáze: | OpenAIRE |
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