Article
GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders.
Epilepsia - 1 Jun 2015
Ohba Chihiro, Shiina Masaaki, Tohyama Jun, Haginoya Kazuhiro, Lerman-Sagie Tally, Okamoto Nobuhiko, Blumkin Lubov, Lev Dorit, Mukaida Souichi, Nozaki Fumihito, Uematsu Mitsugu, Onuma Akira, Kodera Hirofumi, Nakashima Mitsuko, Tsurusaki Yoshinori, Miyake Noriko, Tanaka Fumiaki, Kato Mitsuhiro, Ogata Kazuhiro, Saitsu Hirotomo, Matsumoto Naomichi
Abstract excerpt
OBJECTIVE: Recently, de novo mutations in GRIN1 have been identified in patients with nonsyndromic intellectual disability and epileptic encephalopathy. Whole exome sequencing (WES) analysis of patients with genetically unsolved epileptic encephalopathies identified four patients with GRIN1 mutations, allowing us to investigate the phenotypic spectrum of GRIN1 mutations. METHODS: Eighty-eight patients with...
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