Blar i Department of Clinical Medicine på tidsskrift "Cerebellum & Ataxias"
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Fever-related ataxia: a case report of CAPOS syndrome
(Journal article; Peer reviewed, 2019)Background: CAPOS (Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy and Sensorineural hearing loss) syndrome is caused by the heterozygous mutation, c.2452G > A, in the ATP1A3 gene. Other mutations in this gene ...