Role of astrocytic inwardly rectifying potassium (Kir) 4.1 channels in epileptogenesis

M Kinboshi, A Ikeda, Y Ohno - Frontiers in Neurology, 2020 - frontiersin.org
Astrocytes regulate potassium and glutamate homeostasis via inwardly rectifying potassium
(Kir) 4.1 channels in synapses, maintaining normal neural excitability. Numerous studies …

Glioma epileptiform activity and progression are driven by IGSF3-mediated potassium dysregulation

RN Curry, I Aiba, J Meyer, B Lozzi, Y Ko, MF McDonald… - Neuron, 2023 - cell.com
Seizures are a frequent pathophysiological feature of malignant glioma. Recent studies
implicate peritumoral synaptic dysregulation as a driver of brain hyperactivity and tumor …

Rare Missense Variants in KCNJ10 Are Associated with Paroxysmal Kinesigenic Dyskinesia

T Wirth, E Roze, C Delvallée, O Trouillard… - Movement …, 2024 - Wiley Online Library
Background Although the group of paroxysmal kinesigenic dyskinesia (PKD) genes is
expanding, the molecular cause remains elusive in more than 50% of cases. Objective The …

Heterozygous Variants in KCNJ10 Cause Paroxysmal Kinesigenic Dyskinesia Via Haploinsufficiency

YL Li, J Lin, X Huang, RH Zeng, G Zhang… - Annals of …, 2024 - Wiley Online Library
Objective Most paroxysmal kinesigenic dyskinesia (PKD) cases are hereditary, yet
approximately 60% of patients remain genetically undiagnosed. We undertook the present …

Envisioning the role of inwardly rectifying potassium (Kir) channel in epilepsy

E Akyuz, B Koklu, A Uner… - Journal of …, 2022 - Wiley Online Library
Epilepsy is a devastating neurological disorder characterized by recurrent seizures
attributed to the disruption of the dynamic excitatory and inhibitory balance in the brain …

EAST/SeSAME syndrome and beyond: the spectrum of Kir4. 1-and Kir5. 1-associated channelopathies

J Lo, AL Forst, R Warth, AA Zdebik - Frontiers in Physiology, 2022 - frontiersin.org
In 2009, two groups independently linked human mutations in the inwardly rectifying K+
channel Kir4. 1 (gene name KCNJ10) to a syndrome affecting the central nervous system …

Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype

M Morin, AL Forst, P Pérez-Torre, A Jiménez-Escrig… - neurogenetics, 2020 - Springer
KCNJ10 encodes the inward-rectifying potassium channel (Kir4. 1) that is expressed in the
brain, inner ear, and kidney. Loss-of-function mutations in KCNJ10 gene cause a complex …

Genetics in epilepsy

LA Martinez, YC Lai, JL Holder… - Neurologic …, 2021 - neurologic.theclinics.com
Epilepsy is defined as having 2 or more unprovoked seizures and may arise after acquired
brain injury, including traumatic brain injury, or various insults related to inflammation …

A case series of adult patients affected by EAST/SeSAME syndrome suggests more severe disease in subjects bearing KCNJ10 truncating mutations

Y Suzumoto, V Columbano, L Gervasi… - Intractable & Rare …, 2021 - jstage.jst.go.jp
EAST/SeSAME syndrome is a rare disease affecting the Central Nervous System (CNS),
inner ear, and kidney. The syndrome is due to loss-of-function mutations in the KCNJ10 …

Transcriptomic analysis to identify genes associated with hypothalamus vulnerability in aging mice with cognitive decline

X Tian, Z Zhao, J Zhao, D Su, B He, C Shi… - Behavioural Brain …, 2024 - Elsevier
The normal aging process is accompanied by cognitive decline, and previous studies have
indicated the crucial role of the hypothalamus in regulating both aging and cognition …