Neuronal voltage-gated calcium channels: structure, function, and dysfunction

BA Simms, GW Zamponi - Neuron, 2014 - cell.com
Voltage-gated calcium channels are the primary mediators of depolarization-induced
calcium entry into neurons. There is great diversity of calcium channel subtypes due to …

Tapping the brakes: cellular and synaptic mechanisms that regulate thalamic oscillations

PM Fogerson, JR Huguenard - Neuron, 2016 - cell.com
Thalamic oscillators contribute to both normal rhythms associated with sleep and anesthesia
and abnormal, hypersynchronous oscillations that manifest behaviorally as absence …

Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals

YCA Feng, DP Howrigan, LE Abbott, K Tashman… - The American Journal of …, 2019 - cell.com
Sequencing-based studies have identified novel risk genes associated with severe
epilepsies and revealed an excess of rare deleterious variation in less-severe forms of …

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

H Najmabadi, H Hu, M Garshasbi, T Zemojtel… - Nature, 2011 - nature.com
Common diseases are often complex because they are genetically heterogeneous, with
many different genetic defects giving rise to clinically indistinguishable phenotypes. This has …

T-type calcium channel blockers that attenuate thalamic burst firing and suppress absence seizures

E Tringham, KL Powell, SM Cain, K Kuplast… - Science translational …, 2012 - science.org
Absence seizures are a common seizure type in children with genetic generalized epilepsy
and are characterized by a temporary loss of awareness, arrest of physical activity, and …

Role of voltage-gated calcium channels in epilepsy

GW Zamponi, P Lory, E Perez-Reyes - Pflügers Archiv-European Journal …, 2010 - Springer
It is well established that idiopathic generalized epilepsies (IGEs) show a polygenic origin
and may arise from dysfunction of various types of voltage-and ligand-gated ion channels …

Natural variation in gene expression and viral susceptibility revealed by neural progenitor cell villages

MF Wells, J Nemesh, S Ghosh, JM Mitchell, MR Salick… - Cell Stem Cell, 2023 - cell.com
Human genome variation contributes to diversity in neurodevelopmental outcomes and
vulnerabilities; recognizing the underlying molecular and cellular mechanisms will require …

Neuronal Cav3 channelopathies: recent progress and perspectives

P Lory, S Nicole, A Monteil - Pflügers Archiv-European Journal of …, 2020 - Springer
T-type, low-voltage activated, calcium channels, now designated Cav3 channels, are
involved in a wide variety of physiological functions, especially in nervous systems. Their …

[HTML][HTML] T-type calcium channels in burst-firing, network synchrony, and epilepsy

SM Cain, TP Snutch - Biochimica et Biophysica Acta (BBA)-Biomembranes, 2013 - Elsevier
Low voltage-activated (LVA) T-type calcium channels are well regarded as a key
mechanism underlying the generation of neuronal burst-firing. Their low threshold for …

A recurrent mutation in CACNA1G alters Cav3. 1 T-type calcium-channel conduction and causes autosomal-dominant cerebellar ataxia

M Coutelier, I Blesneac, A Monteil, ML Monin… - The American Journal of …, 2015 - cell.com
Hereditary cerebellar ataxias (CAs) are neurodegenerative disorders clinically characterized
by a cerebellar syndrome, often accompanied by other neurological or non-neurological …