A novel pathogenic SLC A missense variant in epilepsy of infancy with migrating focal seizures cause...
A novel pathogenic SLC A missense variant in epilepsy of infancy with migrating focal seizures causes impaired KCC chloride extrusion
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Publisher
Frontiers Media
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Language
English
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Frontiers Media
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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 SLC12A5 affe...
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Full title
A novel pathogenic SLC A missense variant in epilepsy of infancy with migrating focal seizures causes impaired KCC chloride extrusion
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TN_cdi_hal_primary_oai_HAL_hal_04612061v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_04612061v1
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ISSN
1662-5099
E-ISSN
1662-5099
DOI
10.3389/fnmol.2024.1372662
