Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Ionotropic GABA and Glutamate Receptor Mutations and Human Neurologic Diseases.

Molecular pharmacology - 1 Jul 2015

Yuan Hongjie, Low Chian-Ming, Moody Olivia A, Jenkins Andrew, Traynelis Stephen F

Abstract excerpt

The advent of whole exome/genome sequencing and the technology-driven reduction in the cost of next-generation sequencing as well as the introduction of diagnostic-targeted sequencing chips have resulted in an unprecedented volume of data directly linking patient genomic variability to disorders of the brain. This information has the potential to transform our understanding of neurologic disorders by improving...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Binding Sites
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Variation

Share to Nervous System Diseases

Share to Protein Structure, Tertiary

Share to Receptors, GABA

Source

Open in PubMed Open full text

Identifiers

PMID: 25904555
DOI: 10.1124/mol.115.097998
PMCID: PMC4468639

Genes

GRIA3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Ionotropic GABA and Glutamate Receptor Mutations and Human Neurologic Diseases.PMID 25904555Read ↗

Functional Investigation of a GRIN2A Variant Associated with Rolandic Epilepsy.Semantic proximity Read ↗

Distinct roles of GRIN2A and GRIN2B variants in neurological conditionsSemantic proximity Read ↗

Spectrum of NMDA Receptor Variants in Neurodevelopmental Disorders and Epilepsy.Semantic proximity Read ↗

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.Semantic proximity Read ↗

A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasiaSemantic proximity Read ↗

Disease-Associated Variants in GRIN1, GRIN2A and GRIN2B genes: Insights into NMDA Receptor Structure, Function, and Pathophysiology.Semantic proximity Read ↗

Functional Analysis of Human GRIN2A Mutations Associated with Schizophrenia and Neurodevelopmental Disorders Reveals Distinct Pathological MechanismSemantic proximity Read ↗

Unraveling GRIA1 neurodevelopmental disorders: Lessons learned from the p.(Ala636Thr) variant.Semantic proximity Read ↗

Differential functional consequences of GRIN2A mutations associated with schizophrenia and neurodevelopmental disorders.Semantic proximity Read ↗

GRIN2A Variants Associated With Idiopathic Generalized EpilepsiesSemantic proximity Read ↗

Clinical phenotype and functional influence of GRIN2A variants in epilepsy-aphasia syndrome.Semantic proximity Read ↗

Spectrum of GABAA receptor variants in epilepsySemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.