Article
[Clinical features of CAPOS syndrome caused by maternal ATP1A3 gene variation: a case report].
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery - 1 Jan 2024
Gao Yun, Li Fengjiao, Luo Rong, Chen Guohui, Li Danyang, Wang Dayong, Wang Qiuju
Abstract excerpt
CAPOS syndrome is an autosomal dominant neurological disorder caused by mutations in the ATP1A3 gene. Initial symptoms, often fever-induced, include recurrent acute ataxic encephalopathy in childhood, featuring cerebellar ataxia, optic atrophy, areflflexia, sensorineural hearing loss, and in some cases, pes cavus. This report details a case of CAPOS syndrome resulting from a maternal ATP1A3 gene mutation. Both...
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