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

Ranza, Emmanuelle Nathalie; Korff, Christian

doi:10.1136/jmedgenet-2016-104509

Scientific article

English

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

ContributorsRanza, Emmanuelle Nathalie; Korff, Christian

Published inJournal of Medical Genetics, vol. 54, no. 7, p. 460-470

Publication date2017

Abstract

We aimed for a comprehensive delineation of genetic, functional and phenotypic aspects of GRIN2B encephalopathy and explored potential prospects of personalised medicine.

Keywords

Brain Diseases/drug therapy/genetics
Heterozygote
Humans
Magnetic Resonance Imaging
Memantine/therapeutic use
Molecular Targeted Therapy
Mutation/genetics
Neuroimaging
Phenotype
Receptors
N-Methyl-D-Aspartate/antagonists & inhibitors/genetics/metabolism

Affiliation entities

Faculté de médecine / Section de médecine clinique / Département de pédiatrie, gynécologie et obstétrique

Citation (ISO format)

RANZA, Emmanuelle Nathalie, KORFF, Christian. GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. In: Journal of Medical Genetics, 2017, vol. 54, n° 7, p. 460–470. doi: 10.1136/jmedgenet-2016-104509

Article (Published version)

Identifiers

PID : unige:107724
DOI : 10.1136/jmedgenet-2016-104509
PMID : 28377535

Journal ISSN0022-2593

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First validation11/09/2018 13:25:00

Update15/03/2023 08:38:01

Status update15/03/2023 08:38:01

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

We aimed for a comprehensive delineation of genetic, functional and phenotypic aspects of GRIN2B encephalopathy and explored potential prospects of personalised medicine.

Technical informations