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Thorase variants are associated with defects in glutamatergic neurotransmission that can be rescued by Perampanel.
Umanah GKE, Pignatelli M, Yin X, Chen R, Crawford J, Neifert S, Scarffe L, Behensky AA, Guiberson N, Chang M, Ma E, Kim JW, Castro CC, Mao X, Chen L, Andrabi SA, Pletnikov MV, Pulver AE, Avramopoulos D, Bonci A, Valle D, Dawson TM, Dawson VL. Umanah GKE, et al. Among authors: behensky aa. Sci Transl Med. 2017 Dec 13;9(420):eaah4985. doi: 10.1126/scitranslmed.aah4985. Sci Transl Med. 2017. PMID: 29237760 Free PMC article.
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