Journal article
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
Abstract
BACKGROUND: We aimed for a comprehensive delineation of genetic, functional and phenotypic aspects of GRIN2B encephalopathy and explored potential prospects of personalised medicine.
METHODS: Data of 48 individuals with de novo GRIN2B variants were collected from several diagnostic and research cohorts, as well as from 43 patients from the literature. Functional consequences and response to memantine treatment were investigated in vitro and …
Authors
Platzer K; Yuan H; Schütz H; Winschel A; Chen W; Hu C; Kusumoto H; Heyne HO; Helbig KL; Tang S
Journal
Journal of Medical Genetics, Vol. 54, No. 7,
Publisher
BMJ
Publication Date
7 2017
DOI
10.1136/jmedgenet-2016-104509
ISSN
0022-2593