A de novo Ser111Thr variant in aquaporin-4 in a patient with intellectual disability, transient signs of brain ischemia, transient cardiac hypertrophy, and progressive gait disturbance

Siren Berland, Trine L Toft-Bertelsen, Ingvild Aukrust, Jan Byska, Marc Vaudel, Laurence A Bindoff, Nanna MacAulay, Gunnar Houge

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Keyphrases

Biochemistry, Genetics and Molecular Biology

Neuroscience