Heterozygous KCNJ10 variants affecting Kir4.1 channel cause paroxysmal kinesigenic dyskinesia
, 2023 Abstract Background Paroxysmal kinesigenic dyskinesia is the representative form of paroxysmal dyskinesia, and its mechanism is unclear. Although paroxysmal kinesigenic dyskinesia is mostly attributed to genetic factors, more than 60% of paroxysmal kinesigenic dyskinesia cases are of uncertain mutations.
Xiaojun Huang +21 more
openaire +1 more source
Disease Models & Mechanisms, 2013 SUMMARY Recessive mutations in KCNJ10, which encodes an inwardly rectifying potassium channel, were recently identified as the cause of EAST syndrome, a severe and disabling multi-organ disorder consisting of epilepsy, ataxia, sensorineural deafness and ...
Fahad Mahmood +8 more
doaj +1 more source
Mapping Satellite Glial Cell Heterogeneity Reveals Distinct Spatial Organization and Implies Functional Diversity in the Dorsal Root Ganglion. [PDF]
Adv Sci (Weinh)Four distinct satellite glial cell subtypes are identified in mouse dorsal root ganglia using single‐cell RNA sequencing and spatial validation. These subtypes show unique marker profiles and anatomical distributions. Human dorsal root ganglia display layered perisomatic organization with differential marker expression.
Ahlgreen OA +13 more
europepmc +2 more sources
Development of the stria vascularis and potassium regulation in the human fetal cochlea : insights into hereditary sensorineural hearing loss [PDF]
, 2015 Sensorineural hearing loss (SNHL) is one of the most common congenital disorders in humans, afflicting one in every thousand newborns. The majority is of heritable origin and can be divided in syndromic and nonsyndromic forms. Knowledge of the expression
Chuva de Sousa Lopes, Susana Marina +5 more
core +2 more sources
Neurobiology of Disease, 2011 The inwardly-rectifying potassium channel Kir4.1 is a major player in the astrocyte-mediated regulation of [K+]o in the brain, which is essential for normal neuronal activity and synaptic functioning.
Federico Sicca +10 more
doaj +1 more source
Oligodendrocyte-encoded Kir4.1 function is required for axonal integrity
eLife, 2018 Glial support is critical for normal axon function and can become dysregulated in white matter (WM) disease. In humans, loss-of-function mutations of KCNJ10, which encodes the inward-rectifying potassium channel KIR4.1, causes seizures and progressive ...
Lucas Schirmer +20 more
doaj +1 more source
Role of collecting duct principal cell NOS1β in sodium and potassium homeostasis
Physiological Reports, 2021 The nitric oxide (NO)‐generating enzyme, NO synthase‐1β (NOS1β), is essential for sodium (Na+) homeostasis and blood pressure control. We previously showed that collecting duct principal cell NOS1β is critical for inhibition of the epithelial sodium ...
Kelly A. Hyndman +6 more
doaj +1 more source
Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in pendred syndrome/enlarged vestibular aqueducts [PDF]
, 2013 Pendred syndrome is a common autosomal recessive disorder causing deafness. Features include sensorineural hearing impairment, goitre, enlarged vestibular aqueducts (EVA) and occasionally Mondini dysplasia.
Bitner-Glindzicz, M +4 more
core +2 more sources
Role of Astrocytic Inwardly Rectifying Potassium (Kir) 4.1 Channels in Epileptogenesis
Frontiers in Neurology, 2020 Astrocytes regulate potassium and glutamate homeostasis via inwardly rectifying potassium (Kir) 4.1 channels in synapses, maintaining normal neural excitability.
Masato Kinboshi +3 more
doaj +1 more source
Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy [PDF]
, 2016 Dysfunction of the inwardly-rectifying potassium channels Kir4.1 (KCNJ10) represents a pathogenic mechanism contributing to Autism-Epilepsy comorbidity.
Ambrosini, Elena +17 more
core +1 more source