Article
The first report of Japanese patients with asparagine synthetase deficiency.
Brain & development - 1 Mar 2017
Yamamoto Takahiro, Endo Wakaba, Ohnishi Hidenori, Kubota Kazuo, Kawamoto Norio, Inui Takehiko, Imamura Atsushi, Takanashi Jun-Ichi, Shiina Masaaki, Saitsu Hirotomo, Ogata Kazuhiro, Matsumoto Naomichi, Haginoya Kazuhiro, Fukao Toshiyuki
Abstract excerpt
BACKGROUND: Asparagine synthetase (ASNS) deficiency was recently discovered as a metabolic disorder of non-essential amino acids, and presents as severe progressive microcephaly, intellectual disorder, dyskinetic quadriplegia, and intractable seizures. METHODS: Two Japanese children with progressive microcephaly born to unrelated patients were analyzed by whole exome sequencing and novel ASNS mutations were...
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