A novel pathogenic SLC12A5 missense variant in epilepsy of infancy with migrating focal seizures causes impaired KCC2 chloride extrusion

A novel pathogenic SLC12A5 missense variant in epilepsy of infancy with migrating focal seizures causes impaired KCC2 chloride extrusion

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, pathogen...

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Bibliographic Details
Main Authors: Viivi Järvelä, Mira Hamze, Jonna Komulainen-Ebrahim, Elisa Rahikkala, Johanna Piispala, Mika Kallio, Salla M. Kangas, Tereza Nickl, Marko Huttula, Reetta Hinttala, Johanna Uusimaa, Igor Medina, Esa-Ville Immonen
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-04-01
Series:Frontiers in Molecular Neuroscience
Subjects:
SLC12A5
GABA
potassium-chloride co-transporter
chloride
Cl−
epilepsy
Online Access:https://www.frontiersin.org/articles/10.3389/fnmol.2024.1372662/full

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