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A case of early onset epileptic encephalopathy with de novo mutation in SLC35A2: Clinical features and treatment for epilepsy.

Brain & development - 1 Mar 2017

Kimizu Tomokazu, Takahashi Yukitoshi, Oboshi Taikan, Horino Asako, Koike Takayoshi, Yoshitomi Shinsaku, Mori Tatsuo, Yamaguchi Tokito, Ikeda Hiroko, Okamoto Nobuhiko, Nakashima Mitsuko, Saitsu Hirotomo, Kato Mitsuhiro, Matsumoto Naomichi, Imai Katsumi

Abstract excerpt

INTRODUCTION: Mutations of SLC35A2 that encodes Golgi-localized Uridine diphosphate (UDP)-galactose transporter at Xp11.23 lead to congenital disorders of glycosylation (CDG). Although patients with CDG generally have diverse systemic symptoms, patients with a SLC35A2 mutation manifest predominantly disorders of the central nervous system (CNS). CASE REPORT: A female infant aged 12months was referred to our...

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PMID: 27743886
DOI: 10.1016/j.braindev.2016.09.009

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