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The characteristics of epilepsy in patients with Kabuki syndrome with KMT2D mutations (KABUK1) have not yet been well documented. This is the first review to explore this.We enrolled 14 patients with KABUK1, whose median age was 13.6years (range=4.1–21.3years). Their medical records from October 1981 to May 2016 were retrospectively analyzed.Epilepsy was present in 5 (36%) patients. Four of these...
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