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Article

Characteristics of epilepsy in patients with Kabuki syndrome with KMT2D mutations.

Brain & development - 1 Sept 2017

Kurahashi Naoko, Miyake Noriko, Mizuno Seiji, Koshimizu Eriko, Kurahashi Hirokazu, Yamada Keitaro, Natsume Jun, Aoki Yusuke, Nakamura Miho, Taniai Hiroko, Maki Yuki, Abe-Hatano Chihiro, Matsumoto Naomichi, Maruyama Koichi

Abstract excerpt

BACKGROUND: 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. MATERIALS & METHODS: 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. RESULTS: Epilepsy was present in 5...

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Identifiers

PMID: 28404210
DOI: 10.1016/j.braindev.2017.03.025

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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