Associated Papers
Novel Homozygous Full Gene Deletion of SLC12A5 in a Newborn With Refractory Seizures.
Wainman LM et al.
American Journal of Medical Genetics. Part A, 2025
NKCC1 and KCC2: Structural insights into phospho-regulation.
Hartmann AM et al.
Frontiers in Molecular Neuroscience, 2022
The structural basis of function and regulation of neuronal cotransporters NKCC1 and KCC2.
Zhang S et al.
Communications Biology, 2021
Pathogenic potential of human SLC12A5 variants causing KCC2 dysfunction.
Fukuda A et al.
Brain Research, 2019
[A rare form of ion channel gene mutation identified as underlying cause of generalized epilepsy].
Till Á et al.
Orvosi Hetilap, 2019
Identification of KCC2 Mutations in Human Epilepsy Suggests Strategies for Therapeutic Transporter Modulation.
Duy PQ et al.
Frontiers in Cellular Neuroscience, 2019
A de novo missense mutation in SLC12A5 found in a compound heterozygote patient with epilepsy of infancy with migrating focal seizures.
Saito T et al.
Clinical Genetics, 2017
Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay.
Saitsu H et al.
Scientific Reports, 2016
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