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Episodic Ataxia
Episodic ataxia (EA) is an autosomal dominant disorder characterized by sporadic bouts of ataxia (severe discoordination) with or without myokymia (continuous muscle movement). There are seven types recognized but the majority are due to two recognized entities.Riant F, Vahedi K, Tournier-Lasserve E (2011) Hereditary episodic ataxia. Rev Neurol (Paris) Ataxia can be provoked by psychological stress or startle, or heavy exertion, including exercise. Symptoms can first appear in infancy. There are at least six loci for EA, of which 4 are known genes. Some patients with EA also have migraine or progressive cerebellar degenerative disorders, symptomatic of either familial hemiplegic migraine or spinocerebellar ataxia. Some patients respond to acetazolamide though others do not. Signs and symptoms Typically, episodic ataxia presents as bouts of ataxia induced by startle, stress, or exertion. Some patients also have continuous tremors of various motor groups, known as myokymia. Other ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Channelopathy
Channelopathies are a group of diseases caused by the dysfunction of ion channel subunits or their interacting proteins. These diseases can be inherited or acquired by other disorders, drugs, or toxins. Mutations in genes encoding ion channels, which impair channel function, are the most common cause of channelopathies. There are more than 400 genes that encode ion channels, found in all human cell types and are involved in almost all physiological processes. Each type of channel is a multimeric complex of subunits encoded by a number of genes. Depending where the mutation occurs it may affect the gating, conductance, ion selectivity, or signal transduction of the channel. Channelopathies can be categorized based on the organ system which they are associated with. In the cardiovascular system, the electrical impulse needed for each heartbeat is made possible by the electrochemical gradient of each heart cell. Because the heartbeat is dependent on the proper movement of ions across ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neurons
A neuron (American English), neurone (British English), or nerve cell, is an membrane potential#Cell excitability, excitable cell (biology), cell that fires electric signals called action potentials across a neural network (biology), neural network in the nervous system. They are located in the nervous system and help to receive and conduct impulses. Neurons communicate with other cells via synapses, which are specialized connections that commonly use minute amounts of chemical neurotransmitters to pass the electric signal from the presynaptic neuron to the target cell through the synaptic gap. Neurons are the main components of nervous tissue in all Animalia, animals except sponges and placozoans. Plants and fungi do not have nerve cells. Molecular evidence suggests that the ability to generate electric signals first appeared in evolution some 700 to 800 million years ago, during the Tonian period. Predecessors of neurons were the peptidergic secretory cells. They eventually ga ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
North Carolina
North Carolina ( ) is a U.S. state, state in the Southeastern United States, Southeastern region of the United States. It is bordered by Virginia to the north, the Atlantic Ocean to the east, South Carolina to the south, Georgia (U.S. state), Georgia to the southwest, and Tennessee to the west. The state is the List of U.S. states and territories by area, 28th-largest and List of U.S. states and territories by population, 9th-most populous of the List of states and territories of the United States, United States. Along with South Carolina, it makes up the Carolinas region of the East Coast of the United States, East Coast. At the 2020 United States census, 2020 census, the state had a population of 10,439,388. Raleigh, North Carolina, Raleigh is the state's List of capitals in the United States, capital and Charlotte, North Carolina, Charlotte is its List of municipalities in North Carolina, most populous and one of the fastest growing cities in the United States. The Charl ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Spinocerebellar Ataxia Type-6
The spinocerebellar tracts are nerve tracts originating in the spinal cord and terminating in the same side (ipsilateral) of the cerebellum. The two main tracts are the dorsal spinocerebellar tract, and the ventral spinocerebellar tract. Both of these tracts are located in the peripheral region of the lateral funiculi (white matter columns). Other tracts are the rostral spinocerebellar tract, and the cuneocerebellar tract (posterior external arcuate fibers). They carry proprioceptive, and cutaneous information to the cerebellum, where movement can be coordinated. Origins of proprioceptive information Proprioceptive information is obtained by Golgi tendon organs and muscle spindles. * Golgi tendon organs consist of a fibrous capsule enclosing tendon fascicles and bare nerve endings that respond to tension in the tendon by causing action potentials in type Ib afferents. These fibers are relatively large, myelinated, and quickly conducting. * Muscle spindles monitor the length w ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Asterisks
The asterisk ( ), from Late Latin , from Ancient Greek , , "little star", is a typographical symbol. It is so called because it resembles a conventional image of a heraldic star. Computer scientists and mathematicians often vocalize it as star (as, for example, in ''the A* search algorithm'' or '' C*-algebra''). An asterisk is usually five- or six-pointed in print and six- or eight-pointed when handwritten, though more complex forms exist. Its most common use is to call out a footnote. It is also often used to censor offensive words. In computer science, the asterisk is commonly used as a wildcard character, or to denote pointers, repetition, or multiplication. History The asterisk was already in use as a symbol in ice age cave paintings. There is also a two-thousand-year-old character used by Aristarchus of Samothrace called the , , which he used when proofreading Homeric poetry to mark lines that were duplicated. Origen is known to have also used the aster ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Spinocerebellar Ataxia Type-6
The spinocerebellar tracts are nerve tracts originating in the spinal cord and terminating in the same side (ipsilateral) of the cerebellum. The two main tracts are the dorsal spinocerebellar tract, and the ventral spinocerebellar tract. Both of these tracts are located in the peripheral region of the lateral funiculi (white matter columns). Other tracts are the rostral spinocerebellar tract, and the cuneocerebellar tract (posterior external arcuate fibers). They carry proprioceptive, and cutaneous information to the cerebellum, where movement can be coordinated. Origins of proprioceptive information Proprioceptive information is obtained by Golgi tendon organs and muscle spindles. * Golgi tendon organs consist of a fibrous capsule enclosing tendon fascicles and bare nerve endings that respond to tension in the tendon by causing action potentials in type Ib afferents. These fibers are relatively large, myelinated, and quickly conducting. * Muscle spindles monitor the length w ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CACNA1A
Cav2.1, also called the P/ Q voltage-dependent calcium channel, is a calcium channel found mainly in the brain. Specifically, it is found on the presynaptic terminals of neurons in the brain and cerebellum. Cav2.1 plays an important role in controlling the release of neurotransmitters between neurons. It is composed of multiple subunits, including alpha-1, beta, alpha-2/delta, and gamma subunits. The alpha-1 subunit is the pore-forming subunit, meaning that the calcium ions flow through it. Different kinds of calcium channels have different isoforms (versions) of the alpha-1 subunit. Cav2.1 has the alpha-1A subunit, which is encoded by the ''CACNA1A'' gene. Mutations in ''CACNA1A'' have been associated with various neurologic disorders, including familial hemiplegic migraine, episodic ataxia type 2, and spinocerebellar ataxia type 6. Function "Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calciu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Alcohol (drug)
Alcohol, sometimes referred to by the chemical name ethanol, is the active ingredient in alcoholic drinks such as beer, wine, and distilled spirits (hard liquor). Alcohol is a central nervous system (CNS) depressant, decreasing Action potential, electrical activity of neurons in the brain, which causes the characteristic effects of alcohol intoxication ("drunkenness"). Among other effects, alcohol produces euphoria, anxiolytic, decreased anxiety, increased sociability, sedation, and impairment of cognitive, memory, motor control, motor, and sense, sensory function. Alcohol has a variety of adverse effects. Short-term effects of alcohol consumption, Short-term adverse effects include generalized impairment of neurocognitive function, dizziness, nausea, vomiting, and symptoms of hangover. Alcohol is addiction, addictive and can result in alcohol use disorder, Substance dependence, dependence, and Alcohol withdrawal syndrome, withdrawal upon cessation. The long-term effects of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Coffee
Coffee is a beverage brewed from roasted, ground coffee beans. Darkly colored, bitter, and slightly acidic, coffee has a stimulating effect on humans, primarily due to its caffeine content, but decaffeinated coffee is also commercially available. There are also various coffee substitutes. Typically served hot, coffee has the highest sales in the world market for hot drinks. Coffee production begins when the seeds from coffee cherries (the '' Coffea'' plant's fruits) are separated to produce unroasted green coffee beans. The "beans" are roasted and then ground into fine particles. Coffee is brewed from the ground roasted beans, which are typically steeped in hot water before being filtered out. It is usually served hot, although chilled or iced coffee is common. Coffee can be prepared and presented in a variety of ways (e.g., espresso, French press, caffè latte, or already-brewed canned coffee). Sugar, sugar substitutes, milk, and cream are often added to mask ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Episodic Ataxia Schematic Structure
Episodic may refer to: * The nature of television series that are divided into short programs known as episodes * Episodic memory, types of memory that result from specific incidents in a lifetime * Episodic writing, a publishing format by which a single large work is presented in contiguous (typically chronological) installments * Episodic video game An episodic video game is a video game of a shorter length that is commercially released as an installment to a continuous and larger series. Episodic games differ from conventional video games in that they often contain less content but are devel ..., a video game of a shorter length that is commercially released as an installment See also * {{disambiguation ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chiara Sabatti
Chiara Sabatti is an Italian and American statistician and statistical geneticist, and a professor of biomedical data science and of statistics at Stanford University. Her research involves the analysis of high-throughput genomics data. Education and career Sabatti was born in Brescia, Italy. She studied in Brescia and Milan and earned her bachelor's and master's degrees in statistics and economics from Bocconi University in 1993, summa cum laude, working there with Eugenio Regazzini. She came to Stanford University for doctoral study in statistics, and completed her Ph.D. in 1998. Her dissertation, ''Group Transformations and Dimensionality Reduction in Transition Rules for MCMC'', was supervised by Jun S. Liu. After postdoctoral research at Stanford in the group of Neil Risch, Sabatti became an assistant professor of human genetics and statistics at the University of California, Los Angeles in 2000. She returned to Stanford as an associate professor of health research and p ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cell Culture
Cell culture or tissue culture is the process by which cell (biology), cells are grown under controlled conditions, generally outside of their natural environment. After cells of interest have been Cell isolation, isolated from living tissue, they can subsequently be maintained under carefully controlled conditions. They need to be kept at body temperature (37 °C) in an incubator. These conditions vary for each cell type, but generally consist of a suitable vessel with a substrate or rich growth medium, medium that supplies the essential nutrients (amino acids, carbohydrates, vitamins, minerals), growth factors, hormones, and gases (Carbon dioxide, CO2, Oxygen, O2), and regulates the physio-chemical environment (Buffer solution, pH buffer, osmotic pressure, temperature). Most cells require a surface or an artificial substrate to form an adherent culture as a monolayer (one single-cell thick), whereas others can be grown free floating in a medium as a suspension culture. T ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
