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

Pathogenic mechanisms underlying SLC6A1 variant-mediated neurodevelopmental disorders.

Brain : a journal of neurology - 4 Sept 2021

Cheng Jennifer Z, Carvill Gemma L

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to GABA Plasma Membrane Transport Proteins
Share to Genetic Predisposition to Disease
Share to Neurodevelopmental Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 34283886
DOI: 10.1093/brain/awab259

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Pathogenic mechanisms underlying SLC6A1 variant-mediated neurodevelopmental disorders.PMID 34283886Read ↗

SLC gene mutations and pediatric neurological disorders: diverse clinical phenotypes in a Saudi Arabian population.Semantic proximity Read ↗

Neurodevelopmental phenotypes associated with pathogenic variants in SLC6A1.Semantic proximity Read ↗

Assessing the impact of the de novo SLC6A1 mutation in schizophrenia through a comprehensive case study.Semantic proximity Read ↗

Commentary: We've only just begun: unravelling the underlying genetics of neurodevelopmental disorders--a commentary on Kiser et al. (2015).Semantic proximity Read ↗

SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.Semantic proximity Read ↗

SLC25A46 mutations underlie progressive myoclonic ataxia with optic atrophy and neuropathy.Semantic proximity Read ↗

Novel SLC16A2 mutations impair thyroid hormone transport and drive neurodevelopmental deficits in Chinese patients with allan-herndon-dudley syndrome.Semantic proximity Read ↗

Gene symbol: SLC3A1.Semantic proximity Read ↗

Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems.Semantic proximity Read ↗

A missense mutation in SLC6A1 associated with Lennox-Gastaut syndrome impairs GABA transporter 1 protein trafficking and functionSemantic proximity Read ↗

The SLC6A15–SLC6A20 Neutral Amino Acid Transporter Subfamily: Functions, Diseases, and Their Therapeutic RelevanceSemantic proximity Read ↗

[SLC12A3].Semantic proximity Read ↗

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