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Aim
To characterize the clinical and genetic characteristics of a large cohort of patients with pyridoxine‐dependent epilepsy (PDE).
Method
We retrospectively collected clinical and genetic information of 33 (15 males, 18 females; mean [SD] age 4y 11mo [2y 5mo]; 1y 3mo–10y 4mo) patients with PDE from 31 unrelated families at a single centre.
Results
There were many types of seizures, with focal...
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