A novel pathogenic SLC12A5 missense variant in epilepsy of infancy with migrating focal seizures cau...
A novel pathogenic SLC12A5 missense variant in epilepsy of infancy with migrating focal seizures causes impaired KCC2 chloride extrusion
About this item
Full title
Author / Creator
Publisher
Switzerland: Frontiers Research Foundation
Journal title
Language
English
Formats
Publication information
Publisher
Switzerland: Frontiers Research Foundation
Subjects
More information
Scope and Contents
Contents
The potassium-chloride co-transporter 2, KCC2, is a neuron-specific ion transporter that plays a multifunctional role in neuronal development. In mature neurons, KCC2 maintains a low enough intracellular chloride concentration essential for inhibitory neurotransmission. During recent years, pathogenic variants in the KCC2 encoding gene
affecting...
Alternative Titles
Full title
A novel pathogenic SLC12A5 missense variant in epilepsy of infancy with migrating focal seizures causes impaired KCC2 chloride extrusion
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_c924fe7976664232b84b934d595bc41c
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_c924fe7976664232b84b934d595bc41c
Other Identifiers
ISSN
1662-5099
E-ISSN
1662-5099
DOI
10.3389/fnmol.2024.1372662
