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
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
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
Main files (1)
Article (Published version)
Identifiers
- PID : unige:107724
- DOI : 10.1136/jmedgenet-2016-104509
- PMID : 28377535
ISSN of the journal0022-2593