Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3084339 | Pediatric Neurology | 2016 | 6 Pages |
Abstract
Targeted sequencing of the ATP1A3 gene is recommended in children exhibiting paroxysmal, fever-induced ataxia and in adults with a more or less stationary or slowly progressive cerebellar syndrome since childhood accompanied by mixed combinations of areflexia, pes cavus, profound visual impairment, and/or sensorineural hearing loss. Similar to some other types of episodic ataxia, acetazolamide may be considered in patients with CAPOS syndrome to prevent or attenuate bouts of ataxia, but this requires further study.
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Authors
Roderick P.P.W.M. MD, Jolanda H. MD, Meyke MD, Erik-Jan PhD, Bart P.C. MD, PhD,