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 eventually translated into patient care.

Results

Overall, de novo variants in 86 patients were classified as pathogenic/likely pathogenic. Patients presented with neurodevelopmental disorders and a spectrum of hypotonia, movement disorder, cortical visual impairment, cerebral volume loss and epilepsy. Six patients prese

SUBMITTER: Platzer K 

PROVIDER: S-EPMC5656050 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature