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

Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanism

2 Apr 2019

Abstract excerpt

SLC1A2 is a trimeric transporter essential for clearing glutamate from neuronal synapses. Recurrent de novo SLC1A2 missense variants cause a severe, early onset developmental and epileptic encephalopathy via an unclear mechanism. We demonstrate that all 3 variants implicated in this condition localize to the trimerization domain of SLC1A2, and that the Leu85Pro variant acts via a dominant negative mechanism to...

Read the complete abstract on PubMed

Topics

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

Share to Epilepsy research and treatment
Share to Ion channel regulation and function
Share to Neuroscience and Neuropharmacology Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 30937933
DOI: 10.1002/ana.25477

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 · 10 closest

Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanismPMID 30937933Read ↗

Biallelic Mutations in SLC1A2; an Additional Mode of Inheritance for SLC1A2-Related Epilepsy.Semantic proximity Read ↗

A novel pathogenic SLC12A5 missense variant in epilepsy of infancy with migrating focal seizures causes impaired KCC2 chloride extrusionSemantic proximity Read ↗

Mutations associated with epileptic encephalopathy modify EAAT2 anion channel function.Semantic proximity Read ↗

De novo missense variants in <i>SLC32A1</i> cause a neurodevelopmental disorder with epilepsy due to impaired GABAergic neurotransmissionSemantic proximity Read ↗

Recurrent de novo single point variant on the gene encoding Na+/K+ pump results in epilepsy.Semantic proximity Read ↗

Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures.Semantic proximity Read ↗

Association of rare variation in the glutamate receptor gene SLC1A2 with susceptibility to bipolar disorder and schizophrenia.Semantic proximity Read ↗

Molecular basis of the dominant negative effect of a glycine transporter 2 mutation associated with hyperekplexia.Semantic proximity Read ↗

Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts.Semantic proximity Read ↗

Influence of an interaction between lithium salts and a functional polymorphism in SLC1A2 on the history of illness in bipolar disorder.Semantic proximity Read ↗

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