Results 11 to 20 of about 16,843 (240)
Kidney International, 2000 Calcium is an important intracellular signaling molecule, and altered calcium channel function can cause widespread cellular changes. Genetic mutations in calcium channels that cause what appear to be trivial alterations of calcium currents in vitro can result in serious diseases in muscles and the nervous system.
Lorenzon, Nancy M., Beam, Kurt G.
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Neurological channelopathies [PDF]
Postgraduate Medical Journal, 2005 Abstract Ion channels are membrane-bound proteins that perform key functions in virtually all human cells. Such channels are critically important for the normal function of the excitable tissues of the nervous system, such as muscle and brain.
T D, Graves, M G, Hanna
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Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2023 Background Sudden infant death syndrome (SIDS) is the leading cause of death up to age 1. Sudden unexplained death in childhood (SUDC) is similar but affects mostly toddlers aged 1 to 4.
Maria‐Christina Kotta +10 more
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Inherited arrhythmia syndrome predisposing to sudden cardiac death [PDF]
The Korean Journal of Internal Medicine, 2021 Inherited arrhythmia (IA) is one of the main causes of sudden cardiac death (SCD) in young people, and is reported to be a more prevalent cause of SCD in Asia than in Western countries.
Yun Gi Kim +3 more
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Genetics update: monogenetics, polygene disorders and the quest for modifying genes [PDF]
, 2018 The genetic channelopathies are a broad collection of diseases. Many ion channel genes demonstrate wide phenotypic pleiotropy, but nonetheless concerted efforts have been made to characterise genotype-phenotype relationships.
Symonds, Joseph D., Zuberi, Sameer M.
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The Sodium Channel B4-Subunits are Dysregulated in Temporal Lobe Epilepsy Drug-Resistant Patients [PDF]
, 2020 Temporal lobe epilepsy (TLE) is the most common type of partial epilepsy referred for surgery due to antiepileptic drug (AED) resistance. A common molecular target for many of these drugs is the voltage-gated sodium channel (VGSC).
Falciani, Francesco +4 more
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CaMKII-dependent regulation of cardiac Na(+) homeostasis. [PDF]
, 2014 Na(+) homeostasis is a key regulator of cardiac excitation and contraction. The cardiac voltage-gated Na(+) channel, NaV1.5, critically controls cell excitability, and altered channel gating has been implicated in both inherited and acquired arrhythmias.
Grandi, Eleonora, Herren, Anthony W
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Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2021 Background Sudden cardiac arrest is the leading mode of death in the United States. Epilepsy affects 1% of Americans; yet epidemiological data show a prevalence of 4% in cases of sudden cardiac arrest.
C. Anwar A. Chahal +17 more
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Episodic neurologic disorders: syndromes, genes, and mechanisms. [PDF]
, 2013 Many neurologic diseases cause discrete episodic impairment in contrast with progressive deterioration. The symptoms of these episodic disorders exhibit striking variety.
Fu, Ying-Hui +2 more
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Frontiers in Cellular Neuroscience, 2019 Transplantation of bone marrow stromal cells (BMSCs) is a promising therapy for ischemic stroke. Previously, we had reported that the secondary degeneration occurred in the ipsilateral substantia nigra (SN) after permanent distal branch of middle ...
Jizi Jin +13 more
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