Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum

R Guerrini, V Conti, M Mantegazza… - Physiological …, 2023 - journals.physiology.org
Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of
disorders characterized by early-onset, often severe epileptic seizures and EEG …

Cation-chloride cotransporters in neuronal development, plasticity and disease

K Kaila, TJ Price, JA Payne, M Puskarjov… - Nature reviews …, 2014 - nature.com
Electrical activity in neurons requires a seamless functional coupling between
plasmalemmal ion channels and ion transporters. Although ion channels have been studied …

Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility

International Multiple Sclerosis Genetics Consortium*†… - Science, 2019 - science.org
INTRODUCTION Multiple sclerosis (MS) is an inflammatory and degenerative disease of the
central nervous system (CNS) that often presents in young adults. Over the past decade …

[HTML][HTML] The GABAA receptor as a therapeutic target for neurodevelopmental disorders

S Braat, RF Kooy - Neuron, 2015 - cell.com
Intellectual disability, autism spectrum disorder, and epilepsy are prime examples of
neurodevelopmental disorders that collectively affect a significant percentage of the world …

[HTML][HTML] Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies

NL Absalom, VWY Liao, KMH Johannesen… - Nature …, 2022 - nature.com
Many patients with developmental and epileptic encephalopathies present with variants in
genes coding for GABAA receptors. These variants are presumed to cause loss-of-function …

[HTML][HTML] Chloride regulation: a dynamic equilibrium crucial for synaptic inhibition

N Doyon, L Vinay, SA Prescott, Y De Koninck - Neuron, 2016 - cell.com
Fast synaptic inhibition relies on tight regulation of intracellular Cl−. Chloride dysregulation
is implicated in several neurological and psychiatric disorders. Beyond mere disinhibition …

Chloride transporters controlling neuronal excitability

JC Pressey, M de Saint-Rome… - Physiological …, 2023 - journals.physiology.org
Synaptic inhibition plays a crucial role in regulating neuronal excitability, which is the
foundation of nervous system function. This inhibition is largely mediated by the …

[HTML][HTML] The multifaceted roles of KCC2 in cortical development

MA Virtanen, P Uvarov, M Mavrovic, JC Poncer… - Trends in …, 2021 - cell.com
KCC2, best known as the neuron-specific chloride-extruder that sets the strength and
polarity of GABAergic currents during neuronal maturation, is a multifunctional molecule that …

[HTML][HTML] Neuronal K+-Cl- cotransporter KCC2 as a promising drug target for epilepsy treatment

E McMoneagle, J Zhou, S Zhang, W Huang… - Acta Pharmacologica …, 2024 - nature.com
Epilepsy is a prevalent neurological disorder characterized by unprovoked seizures. γ-
Aminobutyric acid (GABA) serves as the primary fast inhibitory neurotransmitter in the brain …

[HTML][HTML] Role of NKCC1 and KCC2 in epilepsy: from expression to function

R Liu, J Wang, S Liang, G Zhang, X Yang - Frontiers in neurology, 2020 - frontiersin.org
As a main inhibitory neurotransmitter in the central nervous system, γ-aminobutyric acid
(GABA) activates chloride-permeable GABAa receptors (GABAa Rs) and induces chloride …