Associated Papers
De Novo SLC12A2 Variant Presenting as Congenital Hearing Loss With Vestibular Areflexia.
Ludin K et al.
American Journal of Medical Genetics. Part A, 2025
NKCC1 in human diseases: is the SLC12A2 gene haploinsufficient?
Delpire E et al.
American Journal of Physiology. Cell Physiology, 2023
NKCC1 Deficiency in Forming Hippocampal Circuits Triggers Neurodevelopmental Disorder: Role of BDNF-TrkB Signalling.
Szymanski J et al.
Brain Sciences, 2022
NKCC1 and KCC2: Structural insights into phospho-regulation.
Hartmann AM et al.
Frontiers in Molecular Neuroscience, 2022
NKCC1: Newly Found as a Human Disease-Causing Ion Transporter.
Koumangoye R et al.
Function (oxford, England), 2021
SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect.
McNeill A et al.
Brain : a Journal of Neurology, 2020
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