GRIN1 mutations cause encephalopathy with infantile‐onset epilepsy, and hyperkinetic and stereotyped movement disorders

Summary 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 m...

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Veröffentlicht in:Epilepsia (Copenhagen) 2015-06, Vol.56 (6), p.841-848
Hauptverfasser: 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
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Sprache:eng
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