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

Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B

7 Apr 2022

Abstract excerpt

Background Malformations of cortical development (MCDs) have been reported in a subset of patients with pathogenic heterozygous variants in GRIN1 or GRIN2B, genes which encode for subunits of the N-methyl-D-aspartate receptor (NMDAR). The aim of this study was to further define the phenotypic spectrum of NMDAR-related MCDs. Methods We report the clinical, radiological and molecular features of 7 new patients and...

Read the complete abstract on PubMed

Topics

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

Share to Fetal and Pediatric Neurological Disorders
Share to Genetics and Neurodevelopmental Disorders
Share to Genomics and Rare Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 35393335
DOI: 10.1136/jmedgenet-2021-107971

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2BPMID 35393335Read ↗

Interstitial 12p13.1 deletion involving GRIN2B in three patients with intellectual disability.Semantic proximity Read ↗

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.Semantic proximity Read ↗

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.Semantic proximity Read ↗

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.Semantic proximity Read ↗

Periventricular nodular heterotopia with overlying polymicrogyria.Semantic proximity Read ↗

Malformations of cortical development.Semantic proximity Read ↗

A novel missense mutation in GRIN2A causes a nonepileptic neurodevelopmental disorderSemantic proximity Read ↗

Malformations of cortical development: clinical features and genetic causes.Semantic proximity Read ↗

Polymicrogyria: a common and heterogeneous malformation of cortical development.Semantic proximity Read ↗

Two new cases of nonepileptic neurodevelopmental disorder due to GRIN2B variants and detailed clinical description of the behavioral phenotype.Semantic proximity Read ↗

GRIN2B-related neurodevelopmental disorders: genotype-phenotype correlations and therapeutic implications.Semantic proximity Read ↗

Human GRIN2B variants in neurodevelopmental disorders.Semantic proximity Read ↗

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