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Article

Further characterization of CAPOS/CAOS syndrome with the Glu818Lys mutation in the ATP1A3 gene: A case report.

Brain & development - 1 Aug 2018

Hayashida Takuya, Saito Yoshiaki, Ishii Atsushi, Hirose Shinichi, Hiraiwa Rika, Maegaki Yoshihiro, Ohno Kousaku

Abstract excerpt

A 38-year-old female patient experienced recurrent episodes of neurological deterioration during febrile illness at the age of 7 and 8 months, and 2, 4, and 37 years. Acute symptoms comprised unconsciousness, headache, abnormal ocular movements, flaccid paralysis with areflexia, ataxia, dysphagia, and movement disorders. Each episode of neurological deterioration was followed by partial recovery with residual...

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PMID: 29625811
DOI: 10.1016/j.braindev.2018.03.004

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