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

The KCC2 Cotransporter and Human Epilepsy: Getting Excited About Inhibition.

The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatry - 1 Dec 2016

Kahle Kristopher T, Khanna Arjun R, Duan JingJing, Staley Kevin J, Delpire Eric, Poduri Annapurna

Abstract excerpt

The cation-Cl- cotransporter KCC2, encoded by SLC12A5, is required for the emergence and maintenance of GABAergic fast synaptic inhibition in organisms across evolution. These findings have suggested that KCC2 deficiency might play a role in the pathogenesis human epilepsy, but this has only recently been substantiated by two lines of genetic evidence. The first is the discovery of heterozygous missense...

Read the complete abstract on PubMed

Topics

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

Share to Anticonvulsants
Share to Epilepsy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

Share to Ion channel regulation and function

Share to Mutation

Share to Neuroscience and Neuropharmacology Research

Share to Sodium-Potassium-Chloride Symporters

Share to Symporters

Source

Identifiers

PMID: 27130838
DOI: 10.1177/1073858416645087

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

The KCC2 Cotransporter and Human Epilepsy: Getting Excited About Inhibition.PMID 27130838Read ↗

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

Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay.Semantic proximity Read ↗

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

Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy.Semantic proximity Read ↗

A variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formation.Semantic proximity Read ↗

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants.Semantic proximity Read ↗

A de novo missense mutation in SLC12A5 found in a compound heterozygote patient with epilepsy of infancy with migrating focal seizuresSemantic proximity Read ↗

The Epilepsy of Infancy With Migrating Focal Seizures: Identification of de novo Mutations of the KCNT2 Gene That Exert Inhibitory Effects on the Corresponding Heteromeric KNa1.1/KNa1.2 Potassium ChannelSemantic proximity Read ↗

Transcript-specific associations of SLC12A5 (KCC2) in human prefrontal cortex with development, schizophrenia, and affective disorders.Semantic proximity Read ↗

Impaired KCC2 phosphorylation leads to neuronal network dysfunction and neurodevelopmental pathogenesisSemantic proximity Read ↗

Mutations affecting GABAergic signaling in seizures and epilepsy.Semantic proximity Read ↗

Conditional Upregulation of KCC2 selectively enhances neuronal inhibition during seizuresSemantic proximity Read ↗

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