GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

K Platzer, H Yuan, H Schütz, A Winschel… - Journal of medical …, 2017 - jmg.bmj.com
Background We aimed for a comprehensive delineation of genetic, functional and
phenotypic aspects of GRIN2B encephalopathy and explored potential prospects of …