Article
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.
Cold Spring Harbor molecular case studies - 1 Feb 2018
Berland Siren, Toft-Bertelsen Trine L, Aukrust Ingvild, Byska Jan, Vaudel Marc, Bindoff Laurence A, MacAulay Nanna, Houge Gunnar
Abstract excerpt
Aquaporin-4, encoded by AQP4, is the major water channel in the central nervous system and plays an important role in the brain's water balance, including edema formation and clearance. Using genomic copy-number analysis and trio-exome sequencing, we investigated a male patient with intellectual disability, hearing loss, and progressive gait dysfunction and found a de novo missense change Ser111Thr in AQP4 as the...
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