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 …
New insights into the physiology and pathophysiology of the atypical sodium leak channel NALCN
A Monteil, NC Guérineau, A Gil-Nagel… - Physiological …, 2024 - journals.physiology.org
Cell excitability and its modulation by hormones and neurotransmitters involve the concerted
action of a large repertoire of membrane proteins, especially ion channels. Unique …
action of a large repertoire of membrane proteins, especially ion channels. Unique …
[HTML][HTML] Long-read assembly of the Chinese rhesus macaque genome and identification of ape-specific structural variants
We present a high-quality de novo genome assembly (rheMacS) of the Chinese rhesus
macaque (Macaca mulatta) using long-read sequencing and multiplatform scaffolding …
macaque (Macaca mulatta) using long-read sequencing and multiplatform scaffolding …
Structural architecture of the human NALCN channelosome
Depolarizing sodium (Na+) leak currents carried by the NALCN channel regulate the resting
membrane potential of many neurons to modulate respiration, circadian rhythm, locomotion …
membrane potential of many neurons to modulate respiration, circadian rhythm, locomotion …
Structure of the human sodium leak channel NALCN
Persistently depolarizing sodium (Na+) leak currents enhance electrical excitability,. The ion
channel responsible for the major background Na+ conductance in neurons is the Na+ leak …
channel responsible for the major background Na+ conductance in neurons is the Na+ leak …
[HTML][HTML] Clinical and genetic overview of paroxysmal movement disorders and episodic ataxias
G Garone, A Capuano, L Travaglini, F Graziola… - International Journal of …, 2020 - mdpi.com
Paroxysmal movement disorders (PMDs) are rare neurological diseases typically
manifesting with intermittent attacks of abnormal involuntary movements. Two main …
manifesting with intermittent attacks of abnormal involuntary movements. Two main …
[HTML][HTML] Structure of the human sodium leak channel NALCN in complex with FAM155A
J Xie, M Ke, L Xu, S Lin, J Huang, J Zhang… - Nature …, 2020 - nature.com
NALCN, a sodium leak channel expressed mainly in the central nervous system, is
responsible for the resting Na+ permeability that controls neuronal excitability. Dysfunctions …
responsible for the resting Na+ permeability that controls neuronal excitability. Dysfunctions …
Ion Channel Contributions to Wing Development in Drosophila melanogaster
LF George, SJ Pradhan, D Mitchell… - G3: Genes …, 2019 - academic.oup.com
During morphogenesis, cells communicate with each other to shape tissues and organs.
Several lines of recent evidence indicate that ion channels play a key role in cellular …
Several lines of recent evidence indicate that ion channels play a key role in cellular …
[HTML][HTML] Architecture of the human NALCN channelosome
NALCN regulates the resting membrane potential by mediating the Na+ leak current in
neurons, and it functions as a channelosome in complex with FAM155A, UNC79, and …
neurons, and it functions as a channelosome in complex with FAM155A, UNC79, and …
[HTML][HTML] Intellectual disability-associated UNC80 mutations reveal inter-subunit interaction and dendritic function of the NALCN channel complex
J Wie, A Bharthur, M Wolfgang, V Narayanan… - Nature …, 2020 - nature.com
The sodium-leak channel NALCN forms a subthreshold sodium conductance that controls
the resting membrane potentials of neurons. The auxiliary subunits of the channel and their …
the resting membrane potentials of neurons. The auxiliary subunits of the channel and their …