Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum
Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of
disorders characterized by early-onset, often severe epileptic seizures and EEG …
disorders characterized by early-onset, often severe epileptic seizures and EEG …
Chloride transporters controlling neuronal excitability
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 …
foundation of nervous system function. This inhibition is largely mediated by the …
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients
H Stranneheim, K Lagerstedt-Robinson… - Genome Medicine, 2021 - Springer
Background We report the findings from 4437 individuals (3219 patients and 1218 relatives)
who have been analyzed by whole genome sequencing (WGS) at the Genomic Medicine …
who have been analyzed by whole genome sequencing (WGS) at the Genomic Medicine …
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 …
central nervous system (CNS) that often presents in young adults. Over the past decade …
The Multiple Sclerosis Genomic Map: Role of peripheral immune cells and resident microglia in susceptibility
International Multiple Sclerosis Genetics Consortium… - BioRxiv, 2017 - biorxiv.org
We assembled and analyzed genetic data of 47,351 multiple sclerosis (MS) subjects and
68,284 control subjects and establish a reference map of the genetic architecture of MS that …
68,284 control subjects and establish a reference map of the genetic architecture of MS that …
Excitatory/inhibitory balance in epilepsies and neurodevelopmental disorders: Depolarizing γ‐aminobutyric acid as a common mechanism
Epilepsy is one of the most common neurological disorders. Although many factors
contribute to epileptogenesis, seizure generation is mostly linked to hyperexcitability due to …
contribute to epileptogenesis, seizure generation is mostly linked to hyperexcitability due to …
Chloride regulation: a dynamic equilibrium crucial for synaptic inhibition
Fast synaptic inhibition relies on tight regulation of intracellular Cl−. Chloride dysregulation
is implicated in several neurological and psychiatric disorders. Beyond mere disinhibition …
is implicated in several neurological and psychiatric disorders. Beyond mere disinhibition …
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 …
Aminobutyric acid (GABA) serves as the primary fast inhibitory neurotransmitter in the brain …
The multifaceted roles of KCC2 in cortical development
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 …
polarity of GABAergic currents during neuronal maturation, is a multifunctional molecule that …
The genetic landscape of epilepsy of infancy with migrating focal seizures
R Burgess, S Wang, A McTague, KE Boysen… - Annals of …, 2019 - Wiley Online Library
Objective Epilepsy of infancy with migrating focal seizures (EIMFS) is one of the most severe
developmental and epileptic encephalopathies. We delineate the genetic causes and …
developmental and epileptic encephalopathies. We delineate the genetic causes and …