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SCN1A
Sodium channel protein type 1 subunit alpha (SCN1A), is a protein which in humans is encoded by the ''SCN1A'' gene. Gene location The SCN1A gene is located on chromosome 2 of humans, and is made up of 26 exons spanning a total length of 6030 nucleotide base pairs (bp). Alternative splicing of exon 5 gives rise to two alternate exons. The promoter has been identified 2.5 kilobase pairs (kb) upstream of the transcription start site, and the 5'- untranslated exons may enhance expression of the SCN1A gene in SH-SY5Y cells, a human cell line derived from a neuroblastoma. Function The vertebrate sodium channel is a voltage-gated ion channel essential for the generation and propagation of action potentials, chiefly in nerve and muscle. Voltage-sensitive sodium channels are heteromeric complexes consisting of a large central pore-forming glycosylated alpha subunit and 2 smaller auxiliary beta subunits. Functional studies have indicated that the transmembrane alpha subunit of the br ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Generalized Epilepsy With Febrile Seizures Plus
Generalized epilepsy with febrile seizures plus (GEFS+) is a syndromic autosomal dominant disorder where affected individuals can exhibit numerous epilepsy phenotypes. GEFS+ can persist beyond early childhood (i.e., 6 years of age). GEFS+ is also now believed to encompass three other epilepsy disorders: severe myoclonic epilepsy of infancy (SMEI), which is also known as Dravet's syndrome, borderline SMEI (SMEB), and intractable epilepsy of childhood (IEC). There are at least six types of GEFS+, delineated by their causative gene. Known causative gene mutations are in the sodium channel α subunit genes SCN1A, an associated β subunit SCN1B, and in a GABAA receptor γ subunit gene, in GABRG2 and there is another gene related with calcium channel the PCDH19 which is also known as Epilepsy Female with Mental Retardation. Penetrance for this disorder is estimated at 60%. Signs and symptoms Individuals with GEFS+ present with a range of epilepsy phenotypes. These include febri ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dravet Syndrome
Dravet syndrome, previously known as severe myoclonic epilepsy of infancy (SMEI), is an autosomal dominant genetic disorder which causes a catastrophic form of epilepsy, with prolonged seizures that are often triggered by hot temperatures or fever. It is very difficult to treat with anticonvulsant medications. It often begins before 1 year of age, with 6 months being the age that seizures, characterized by prolonged convulsions and triggered by fever, usually begin. Signs and symptoms Dravet syndrome has been characterized by prolonged febrile and non-febrile seizures within the first year of a child's life. This disease progresses to other seizure types like myoclonic and partial seizures, psychomotor delay, and ataxia. It is characterized by cognitive impairment, behavioural disorders, and motor deficits. Behavioural deficits often include hyperactivity and impulsiveness, and in more rare cases, autistic-like behaviours. Dravet syndrome is also associated with sleep disorders i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sodium Channel
Sodium channels are integral membrane proteins that form ion channels, conducting sodium ions (Na+) through a cell's membrane. They belong to the superfamily of cation channels and can be classified according to the trigger that opens the channel for such ions, i.e. either a voltage-change ("voltage-gated", "voltage-sensitive", or "voltage-dependent" sodium channel; also called "VGSCs" or "Nav channel") or a binding of a substance (a ligand) to the channel ( ligand-gated sodium channels). In excitable cells such as neurons, myocytes, and certain types of glia, sodium channels are responsible for the rising phase of action potentials. These channels go through three different states called resting, active and inactive states. Even though the resting and inactive states would not allow the ions to flow through the channels the difference exists with respect to their structural conformation. Selectivity Sodium channels are highly selective for the transport of ions across cell m ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sodium Channel
Sodium channels are integral membrane proteins that form ion channels, conducting sodium ions (Na+) through a cell's membrane. They belong to the superfamily of cation channels and can be classified according to the trigger that opens the channel for such ions, i.e. either a voltage-change ("voltage-gated", "voltage-sensitive", or "voltage-dependent" sodium channel; also called "VGSCs" or "Nav channel") or a binding of a substance (a ligand) to the channel ( ligand-gated sodium channels). In excitable cells such as neurons, myocytes, and certain types of glia, sodium channels are responsible for the rising phase of action potentials. These channels go through three different states called resting, active and inactive states. Even though the resting and inactive states would not allow the ions to flow through the channels the difference exists with respect to their structural conformation. Selectivity Sodium channels are highly selective for the transport of ions across cell m ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Voltage-gated Sodium Channel
Sodium channels are integral membrane proteins that form ion channels, conducting sodium ions (Na+) through a cell's membrane. They belong to the superfamily of cation channels and can be classified according to the trigger that opens the channel for such ions, i.e. either a voltage-change ("voltage-gated", "voltage-sensitive", or "voltage-dependent" sodium channel; also called "VGSCs" or "Nav channel") or a binding of a substance (a ligand) to the channel ( ligand-gated sodium channels). In excitable cells such as neurons, myocytes, and certain types of glia, sodium channels are responsible for the rising phase of action potentials. These channels go through three different states called resting, active and inactive states. Even though the resting and inactive states would not allow the ions to flow through the channels the difference exists with respect to their structural conformation. Selectivity Sodium channels are highly selective for the transport of ions across cell memb ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Febrile Seizure
A febrile seizure, also known as a fever fit or febrile convulsion, is a seizure associated with an increased body temperature Thermoregulation is the ability of an organism to keep its body temperature within certain boundaries, even when the surrounding temperature is very different. A thermoconforming organism, by contrast, simply adopts the surrounding temperatur ... but without any intracranial infection. Febrile seizures affect 2–7% of children and are more common in boys than girls. They most commonly occur in children between the ages of 6 months and 5 years with a higher incidence around 18 month of age. Most seizures last less than five minutes, and the child typically recovers quickly. There are two types: simple febrile seizures and complex febrile seizures Simple febrile seizures involve an otherwise healthy child with a single, one episode of generalized seizure lasting less than 15 minutes. Complex febrile seizures have one of more of the following: focal ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SCN3A
Sodium channel, voltage-gated, type III, alpha subunit (SCN3A) is a protein that in humans is encoded by the ''SCN3A'' gene. Function Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family, and is found in a cluster of five alpha subunit genes on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene. SCN3A is involved in gyrification – the folding of the human cerebral cortex The cerebral cortex, also known as the cerebral mantle, is the outer layer of neural tissue of the cerebrum of the brain in humans and other mammals. The cerebral cortex mostly consists of the six-layered neocortex, with just 10% consistin ..., and affe ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
De Novo Mutation
A de novo mutation is any mutation/alteration in the genome of any organism (humans, animals, plant, microbes, etc.) that wasn't present or transmitted by their parents. This type of mutation (like any other) occurs spontaneously during the process of DNA replication during cell division in a fetus whose close, biological relatives don't have the mutation. Often, these kind of mutations have very little to no effect on the affected organism, but in rare cases they have a notable and/or serious effect on overall health, physical appearance, etc. Rate The average number of spontaneous mutations (not present in the parents) an infant has in its genome is approximately 43.86 DNMs. A study done in September of 2019 by the University of Utah Health revealed that certain families have a higher spontaneous mutation rate than average, meaning that their newborns had more spontaneous mutations (not present in their parents) than the average newborn, this tendency was found to be hereditar ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Syntrophin, Alpha 1
Alpha-1-syntrophin is a protein that in humans is encoded by the ''SNTA1'' gene. Alpha-1 syntrophin is a signal transducing adaptor protein and serves as a scaffold for various signaling molecules. Alpha-1 syntrophin contains a PDZ domain, two Pleckstrin homology domain and a 'syntrophin unique' domain. Function Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally related genes. The PDZ domain of syntrophin-α1(SNTA1), the most abundant isoform in the heart, has been reported to bind to the C-terminal domain of murine cardiac voltage-gated sodium channels (SkM2) causing alte ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Westmead, New South Wales
Westmead is a suburb in Sydney, in the state of New South Wales, Australia. Westmead is located 26 kilometres west of the Sydney central business district in the local government area of Cumberland Council and is part of the Greater Western Sydney region. Geography Westmead is bounded by the Parramatta River, Toongabbie Creek and Finlayson Creek in the north. On the east it is bounded by Parramatta Park, the Parramatta Golf Club, Amos Street and Good Street. The southern boundary is the Great Western Highway. The western boundary is Bridge Road, the railway line and Finlayson Creek. History With the British settlement of Parramatta, Westmead was originally part of the domain of Government House. What is left of this domain, including Government House, form Parramatta Park. The name Westmead came into use when the governor's domain was first subdivided in 1859. The subdivision of the domain was completed in 1889. The Northern Meadow and Western Meadow of the domain were split ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sydney Morning Herald
''The Sydney Morning Herald'' (''SMH'') is a daily compact newspaper published in Sydney, New South Wales, Australia, and owned by Nine. Founded in 1831 as the ''Sydney Herald'', the ''Herald'' is the oldest continuously published newspaper in Australia and "the most widely-read masthead in the country." The newspaper is published in compact print form from Monday to Saturday as ''The Sydney Morning Herald'' and on Sunday as its sister newspaper, '' The Sun-Herald'' and digitally as an online site and app, seven days a week. It is considered a newspaper of record for Australia. The print edition of ''The Sydney Morning Herald'' is available for purchase from many retail outlets throughout the Sydney metropolitan area, most parts of regional New South Wales, the Australian Capital Territory and South East Queensland. Overview ''The Sydney Morning Herald'' publishes a variety of supplements, including the magazines ''Good Weekend'' (included in the Saturday edition of ''Th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
