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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 pa ... [...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, neurone, or nerve cell is an electrically excitable cell that communicates with other cells via specialized connections called synapses. The neuron is the main component of nervous tissue in all animals except sponges and placozoa. Non-animals like plants and fungi do not have nerve cells. Neurons are typically classified into three types based on their function. Sensory neurons respond to stimuli such as touch, sound, or light that affect the cells of the sensory organs, and they send signals to the spinal cord or brain. Motor neurons receive signals from the brain and spinal cord to control everything from muscle contractions to glandular output. Interneurons connect neurons to other neurons within the same region of the brain or spinal cord. When multiple neurons are connected together, they form what is called a neural circuit. A typical neuron consists of a cell body (soma), dendrites, and a single axon. The soma is a compact structure, and the axon and dend ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
North Carolina
North Carolina () is a state in the Southeastern region of the United States. The state is the 28th largest and 9th-most populous of the United States. It is bordered by Virginia to the north, the Atlantic Ocean to the east, Georgia and South Carolina to the south, and Tennessee to the west. In the 2020 census, the state had a population of 10,439,388. Raleigh is the state's capital and Charlotte is its largest city. The Charlotte metropolitan area, with a population of 2,595,027 in 2020, is the most-populous metropolitan area in North Carolina, the 21st-most populous in the United States, and the largest banking center in the nation after New York City. The Raleigh-Durham-Cary combined statistical area is the second-largest metropolitan area in the state and 32nd-most populous in the United States, with a population of 2,043,867 in 2020, and is home to the largest research park in the United States, Research Triangle Park. The earliest evidence of human occupation i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Spinocerebellar Ataxia Type-6
Spinocerebellar ataxia type 6 (SCA6) is a rare, late-onset, autosomal dominant disorder, which, like other types of SCA, is characterized by dysarthria, oculomotor disorders, peripheral neuropathy, and ataxia of the gait, stance, and limbs due to cerebellar dysfunction. Unlike other types, SCA 6 is not fatal. This cerebellar function is permanent and progressive, differentiating it from episodic ataxia type 2 (EA2) where said dysfunction is episodic. In some SCA6 families, some members show these classic signs of SCA6 while others show signs more similar to EA2, suggesting that there is some phenotypic overlap between the two disorders. SCA6 is caused by mutations in CACNA1A, a gene encoding a calcium channel α subunit. These mutations tend to be trinucleotide repeats of CAG, leading to the production of mutant proteins containing stretches of 20 or more consecutive glutamine residues; these proteins have an increased tendency to form intracellular agglomerations. Unlike many ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Asterisks
The asterisk ( ), from Late Latin , from Ancient Greek , ''asteriskos'', "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''). In English, an asterisk is usually five- or six-pointed in sans-serif typefaces, six-pointed in serif typefaces, and six- or eight-pointed when handwritten. 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 has already been used 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 know ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Spinocerebellar Ataxia Type-6
Spinocerebellar ataxia type 6 (SCA6) is a rare, late-onset, autosomal dominant disorder, which, like other types of SCA, is characterized by dysarthria, oculomotor disorders, peripheral neuropathy, and ataxia of the gait, stance, and limbs due to cerebellar dysfunction. Unlike other types, SCA 6 is not fatal. This cerebellar function is permanent and progressive, differentiating it from episodic ataxia type 2 (EA2) where said dysfunction is episodic. In some SCA6 families, some members show these classic signs of SCA6 while others show signs more similar to EA2, suggesting that there is some phenotypic overlap between the two disorders. SCA6 is caused by mutations in CACNA1A, a gene encoding a calcium channel α subunit. These mutations tend to be trinucleotide repeats of CAG, leading to the production of mutant proteins containing stretches of 20 or more consecutive glutamine residues; these proteins have an increased tendency to form intracellular agglomerations. Unlike many ... [...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 calci ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Alcohol (drug)
Alcohol, sometimes referred to by the chemical name ''ethanol'', is a depressant, depressant drug that is the active ingredient in alcoholic drink, drinks such as beer, wine, and distilled spirits (hard liquor). It is one of the oldest and most commonly consumed recreational drugs, causing the characteristic effects of alcohol intoxication ("drunkenness"). Among other effects, alcohol produces happiness and euphoria, anxiolytic, decreased anxiety, increased sociability, sedation, impairment of cognitive, memory, motor control, motor, and sense, sensory function, and generalized depression of central nervous system (CNS) function. Ethanol is only one of several types of Alcohol (chemistry), alcohol, but it is the only type of alcohol that is found in alcoholic beverages or commonly used for recreational purposes; other alcohols such as methanol and isopropyl alcohol are significantly more toxicity, toxic. A mild, brief exposure to isopropanol, being only moderately more toxic tha ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Coffee
Coffee is a drink prepared from roasted coffee beans. Darkly colored, bitter, and slightly acidic, coffee has a stimulant, stimulating effect on humans, primarily due to its caffeine content. It is the most popular hot drink in the world. Seeds of the ''Coffea'' plant's fruits are separated to produce unroasted green coffee beans. The beans are Coffee roasting, roasted and then ground into fine particles that are typically steeped in hot water before being filtered out, producing a cup of coffee. 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 used to mask the bitter taste or enhance the flavor. Though coffee is now a global commodity, it has a History of coffee, long history tied closely to food traditions around the Red Sea. The earliest credible evidence of coffee d ... [...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 * In Geology, episodic refers to events that occur or have occurred periodically * 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 develo ..., 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 an ... [...More Info...] |
