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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. Alternative splicing of exon 5 gives rise to two alternate exons. ''SCN1A'' contains a poison exon within intron 20. The promoter has been identified 2.5 kilobase pairs 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 indicate ... [...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 febr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dravet Syndrome
Dravet syndrome (DS), 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 one year of age, with six months being the age that seizures, characterized by prolonged convulsions and triggered by fever, usually begin. Prolonged seizures in the first year of life are the most indicative physical manifestation of DS. DS is diagnosed clinically and genetic testing is recommended if there is any doubt. Due to drug-refractory epilepsy in DS, many other therapies are being explored to prolong the life expectancy of patients. 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 myoclo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Poison Exon
Poison exons (PEs); also called premature termination codon (PTC) exons or nonsense-mediated decay (NMD) exons] are a class of Alternative splicing#Modes, cassette exons that contain PTCs. Inclusion of a PE in a transcript targets the transcript for degradation via NMD. PEs are generally highly conserved elements of the genome and are thought to have important regulatory roles in biology. Targeting PE inclusion or exclusion in certain transcripts is being evaluated as a therapeutic strategy. Discovery In 2002, a model termed regulated unproductive splicing and translation (RUST) was proposed based on the finding that many (~one-third) alternatively spliced transcripts contain PEs. In this model, coupling alternative splicing to NMD (AS-NMD) is thought to tune transcript levels to regulate protein expression. Alternative splicing may also lead to NMD via other pathways besides PE inclusion, e.g., intron retention. PEs were initially characterized in RNA-binding proteins from ... [...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 (biology), cell's cell membrane, membrane. They belong to the Cation channel superfamily, superfamily of cation channels. Classification They are classified into 2 types: Function In excitable cells such as neurons, muscle, myocytes, and certain types of glia, sodium channels are responsible for the Action potential#Stimulation and rising phase, 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 membranes. The high selectivity with respect to the sodium ion is achieved in many different ways. All involve encapsulation of the sodium ion in a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Voltage-gated Sodium Channel
Voltage-gated sodium channels (VGSCs), also known as voltage-dependent sodium channels (VDSCs), are a group of voltage-gated ion channels found in the membrane of excitable cells (''e.g.'', muscle, glial cells, neurons, etc.) with a permeability to the sodium ion Na+. They are the main channels involved in action potential of excitable cells. Structure Sodium channels consist of large alpha subunits that associate with accessory proteins, such as beta subunits. An alpha subunit forms the core of the channel and is functional on its own. When the alpha subunit protein is expressed by a cell, it is able to form a pore in the cell membrane that conducts Na+ in a voltage-dependent way, even if beta subunits or other known modulating proteins are not expressed. When accessory proteins assemble with α subunits, the resulting complex can display altered voltage dependence and cellular localization. The alpha subunit consists of four repeat domains, labelled I through IV, each cont ... [...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. It is the largest site of Neuron, neural integration in the central nervous system, and plays ..., and affe ... [...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 a high body temperature but without any serious underlying health issue. They most commonly occur in children between the ages of 6 months and 5 years. Most seizures are less than five minutes in duration, and the child is completely back to normal within an hour of the event. There are two types: simple febrile seizures and complex febrile seizures. Simple febrile seizures involve an otherwise healthy child who has at most one tonic-clonic seizure lasting less than 15 minutes in a 24-hour period. Complex febrile seizures have focal symptoms, last longer than 15 minutes, or occur more than once within 24 hours. About 80% are classified as simple febrile seizures. Febrile seizures are triggered by fever, typically due to a viral infection. They may run in families. The underlying mechanism is not fully known, but it is thought to involve genetics, environmental factors, brain immatu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neuroblastoma
Neuroblastoma (NB) is a type of cancer that forms in certain types of nerve tissue. It most frequently starts from one of the adrenal glands but can also develop in the head, neck, chest, abdomen, or Vertebral column, spine. Symptoms may include bone pain, a lump in the abdomen, neck, or chest, or a painless bluish lump under the skin. Typically, neuroblastoma occurs due to a genetic mutation occurring in the first trimester of pregnancy. Rarely, it may be due to a mutation heredity, inherited. Environmental factors have not been found to be involved. Diagnosis is based on a tissue biopsy. Occasionally, it may be found in a baby by ultrasound during pregnancy. At diagnosis, the cancer has usually already Metastasis, spread. The cancer is divided into low-, intermediate-, and high-risk groups based on a child's age, cancer stage, and what the cancer looks like. Treatment and outcomes depends on the risk group a person is in. Treatments may include observation, surgery, radiatio ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
De Novo Mutation
A de novo mutation (DNM) is any mutation or alteration in the genome of an individual organism (human, animal, plant, microbe, etc.) that was not inherited from its parents. This type of mutation spontaneously occurs during the process of DNA replication during cell division. De novo mutations, by definition, are present in the affected individual but absent from both biological parents' genomes. A de novo mutation can arise in a sperm or egg cell and become a germline mutation, or after fertilization as a post-zygotic mutation that cannot be inherited by offspring. These mutations can occur in any cell of the offspring, but those in the germ line (eggs or sperm) can be passed on to the next generation. In most cases, such a mutation has little or no effect on the affected organism due to the redundancy and robustness of the genetic code. However, in rare cases, it can have notable and serious effects on overall health, physical appearance, and other traits. Disorders that most co ... [...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 a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
