Results 11 to 20 of about 18,132 (269)

KCNMA1-linked channelopathy [PDF]

Journal of General Physiology, 2019
Bailey et al. review a new neurological channelopathy associated with KCNMA1, encoding the BK voltage- and Ca2+-activated K+ channel.
Cole S Bailey, Hans J. Moldenhauer, S. M. Park, Sotirios Keros, A. Meredith   +4 more
semanticscholar   +3 more sources

New insights into the pathogenesis and therapeutics of Episodic Ataxia type 1. [PDF]

Frontiers in Cellular Neuroscience, 2015
Episodic ataxia type 1 (EA1) is a K+ channelopathy characterized by a broad spectrum of symptoms. Generally, patients may experience constant myokymia and dramatic episodes of spastic contractions of the skeletal muscles of the head, arms, and legs with ...
Maria Cristina D'Adamo, Sonia eHasan, Luca eGuglielmi, Ilenio eServettini, Marta eCenciarini, Luigi eCatacuzzeno, Fabio eFranciolini   +6 more
doaj   +4 more sources

Kv1.1 channelopathy abolishes presynaptic spike width modulation by subthreshold somatic depolarization

Proceedings of the National Academy of Sciences of the United States of America, 2017
Significance Synaptic transmission depends on all-or-none action potentials. However, subthreshold membrane potential fluctuations at the cell body spread passively along the axon and affect the shape of presynaptic action potentials, calcium influx, and
Umesh Vivekananda, Pavel Novak, Oscar D Bello   +2 more
exaly   +2 more sources

An SCN9A channelopathy causes congenital inability to experience pain

Nature, 2006
James J Cox, Frank Reimann, Lihadh Al-Gazali   +2 more
exaly   +2 more sources

Genome Editing of Induced Pluripotent Stem Cells to Decipher Cardiac Channelopathy Variant

Journal of the American College of Cardiology, 2018
Priyanka Garg, Angelos Oikonomopoulos, Haodong Chen   +2 more
exaly   +2 more sources

Channelopathies [PDF]

Korean Journal of Pediatrics, 2014
Channelopathies are a heterogeneous group of disorders resulting from the dysfunction of ion channels located in the membranes of all cells and many cellular organelles. These include diseases of the nervous system (e.g., generalized epilepsy with febrile seizures plus, familial hemiplegic migraine, episodic ataxia, and hyperkalemic and hypokalemic ...
  +6 more sources

Novel Genetic Variants Expand the Functional, Molecular, and Pathological Diversity of KCNA1 Channelopathy

International Journal of Molecular Sciences, 2023
The KCNA1 gene encodes Kv1.1 voltage-gated potassium channel α subunits, which are crucial for maintaining healthy neuronal firing and preventing hyperexcitability. Mutations in the KCNA1 gene can cause several neurological diseases and symptoms, such as
Kelsey Paulhus, E. Glasscock
semanticscholar   +1 more source

Miswired Proprioception in Amyotrophic Lateral Sclerosis in Relation to Pain Sensation (and in Delayed Onset Muscle Soreness)—Is Piezo2 Channelopathy a Principal Transcription Activator in Proprioceptive Terminals Besides Being the Potential Primary Damage?

Life, 2023
Amyotrophic lateral sclerosis (ALS) is a lethal neurodegenerative multisystem disease, with an unknown pathomechanism, resulting in progressive motoneuron loss.
B. Sonkodi
semanticscholar   +1 more source

Epigenetic regulation of beta-endorphin synthesis in hypothalamic arcuate nucleus neurons modulates neuropathic pain in a rodent pain model

Nature Communications, 2023
Although beta-endorphinergic neurons in the hypothalamic arcuate nucleus (ARC) synthesize beta-endorphin (β-EP) to alleviate nociceptive behaviors, the underlying regulatory mechanisms remain unknown.
Yu Tao, Yuan Zhang, Xiaohong Jin, Nan Hua, Hong Liu, Renfei Qi, Zitong Huang, Yufang Sun, Dongsheng Jiang, Terrance P. Snutch, Xinghong Jiang, Jin Tao   +11 more
doaj   +1 more source

News and views on ion channels in cancer: is cancer a channelopathy?

Frontiers in Pharmacology, 2023
Ion channels are key signaling proteins found throughout the body; they are critical in many, wide-ranging physiological processes, from gene expression, sensory perception and processing to the cardiac action potential.
Damian C. Bell, L. Leanza, S. Gentile, D. R. Sauter   +3 more
semanticscholar   +1 more source