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Lennox–Gastaut Syndrome
Lennox–Gastaut syndrome (LGS) is a complex, rare, and severe childhood-onset epilepsy syndrome. It is characterized by multiple and concurrent seizure types including tonic seizure, cognitive dysfunction, and slow spike waves on electroencephalogram (EEG), which are very abnormal. Typically, it presents in children aged 3–5 years and most of the time persists into adulthood with slight changes in the electroclinical phenotype. It has been associated with perinatal injuries, congenital infections, brain malformations, brain tumors, genetic disorders such as tuberous sclerosis and numerous gene mutations. Sometimes LGS is observed after infantile epileptic spasm syndrome (formerly called West syndrome). The prognosis for LGS is marked by a 5% mortality in childhood and persistent seizures into adulthood (at least 90% of adults with LGS still have seizures). LGS was named for neurologists William G. Lennox (Boston, US) and Henri Gastaut (Marseille, France), who independently d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neurology
Neurology (from , "string, nerve" and the suffix wikt:-logia, -logia, "study of") is the branch of specialty (medicine) , medicine dealing with the diagnosis and treatment of all categories of conditions and disease involving the nervous system, which comprises the Human brain, brain, the spinal cord and the peripheral nervous system , peripheral nerves. Neurological practice relies heavily on the field of neuroscience, the scientific study of the nervous system, using various techniques of neurotherapy. IEEE Brain (2019). "Neurotherapy: Treating Disorders by Retraining the Brain". ''The Future Neural Therapeutics White Paper''. Retrieved 23.01.2025 from: https://brain.ieee.org/topics/neurotherapy-treating-disorders-by-retraining-the-brain/#:~:text=Neurotherapy%20trains%20a%20patient's%20brain,wave%20activity%20through%20positive%20reinforcement International Neuromodulation Society, Retrieved 23 January 2025 from: https://www.neuromodulation.com/ Val Danilov I (2023). "The O ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Axial Skeleton
The axial skeleton is the core part of the endoskeleton made of the bones of the head and trunk of vertebrates. In the human skeleton, it consists of 80 bones and is composed of the skull (28 bones, including the cranium, mandible and the middle ear ossicles), the vertebral column (26 bones, including vertebrae, sacrum and coccyx), the rib cage (25 bones, including ribs and sternum), and the hyoid bone. The axial skeleton is joined to the appendicular skeleton (which support the limbs) via the shoulder girdles and the pelvis. Structure Flat bones house the brain and other vital organs. This article mainly deals with the axial skeletons of humans; however, it is important to understand its evolutionary lineage. The human axial skeleton consists of 81 different bones forming the medial core of the body and connects the pelvis to the body, where the appendicular skeleton attaches. As the skeleton grows older the bones get weaker with the exception of the skull. The skull ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SCN2A
Sodium channel protein type 2 subunit alpha, is a protein that in humans is encoded by the ''SCN2A'' gene. Functional sodium channels contain an ion conductive alpha subunit and one or more regulatory beta subunits. Sodium channels which contain sodium channel protein type 2 subunit alpha are sometimes called Nav1.2 channels. Function Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with four domains including 24 transmembrane segments 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. It is heterogeneously expressed in the brain, and mutations in this gene have been linked to several seizure disorders. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been de ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ALG13
UDP-N-acetylglucosamine transferase subunit ALG13 homolog, also known as asparagine-linked glycosylation 13 homolog, is an enzyme that in humans is encoded by the ''ALG13'' gene. Function The protein encoded by this gene is a subunit of a bipartite UDP-N-acetylglucosamine transferase. It heterodimerizes with asparagine-linked glycosylation 14 (ALG14) homolog to form a functional UDP-GlcNAc glycosyltransferase that catalyzes the second sugar addition of the highly conserved oligosaccharide precursor in endoplasmic reticulum N-linked glycosylation. See also * Congenital disorder of glycosylation A congenital disorder of glycosylation (previously called carbohydrate-deficient glycoprotein syndrome) is one of several rare inborn errors of metabolism in which glycosylation of a variety of tissue proteins and/or lipids is deficient or defect ... References Further reading * * * * * * * * * * * * * * External links * Human proteins {{gene-X-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
GABRB3
Gamma-aminobutyric acid receptor subunit beta-3 is a protein that in humans is encoded by the ''GABRB3'' gene. It is located within the 15q12 region in the human genome and spans 250kb. This gene includes 10 exons within its coding region. Due to alternative splicing, the gene codes for many protein isoforms, all being subunits in the GABAA receptor, a ligand-gated ion channel. The beta-3 subunit is expressed at different levels within the cerebral cortex, hippocampus, cerebellum, thalamus, olivary body and piriform cortex of the brain at different points of development and maturity. GABRB3 deficiencies are implicated in many human neurodevelopmental disorders and syndromes such as Angelman syndrome, Prader-Willi syndrome, nonsyndromic orofacial clefts, epilepsy and autism. The effects of methaqualone and etomidate are mediated through GABBR3 positive allosteric modulation. Gene The GABRB3 gene is located on the long arm of chromosome 15, within the q12 region in the human g ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CHD2
Chromodomain-helicase-DNA-binding protein 2 is an enzyme that in humans is encoded by the ''CHD2'' gene. Function The Chromodomain helicase DNA-binding (CHD) protein subfamily, CHD family of proteins is characterized by the presence of chromodomain, chromo (chromatin organization modifier) domains and SMARCA2, SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. CHD2 catalyzes the assembly of chromatin into periodic arrays; and the N-terminal region of CHD2, which contains tandem chromodomains, serves an auto-inhibitory role in both the DNA-binding and ATPase activities of CHD2. Alternative splicing, Alternatively spliced transcript variants encoding distinct protein isoform, isoforms have been found for this gene. Clinical significance De novo mutations and deletions in this gene have been associated with cases of epileptic ... [...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] |
Exome
The exome is composed of all of the exons within the genome, the sequences which, when transcribed, remain within the mature RNA after introns are removed by RNA splicing. This includes untranslated regions of messenger RNA (mRNA), and coding regions. Exome sequencing has proven to be an efficient method of determining the genetic basis of more than two dozen Mendelian or single gene disorders. Statistics The human exome consists of roughly 233,785 exons, about 80% of which are less than 200 base pairs in length, constituting a total of about 1.1% of the total genome, or about 30 megabases of DNA. Though composing a very small fraction of the genome, mutations in the exome are thought to harbor 85% of mutations that have a large effect on disease. Definition It is important to note that the exome is distinct from the transcriptome, which is all of the transcribed RNA within a cell type. While the exome is constant from cell-type to cell-type, the transcriptome changes ba ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genome
A genome is all the genetic information of an organism. It consists of nucleotide sequences of DNA (or RNA in RNA viruses). The nuclear genome includes protein-coding genes and non-coding genes, other functional regions of the genome such as regulatory sequences (see non-coding DNA), and often a substantial fraction of junk DNA with no evident function. Almost all eukaryotes have mitochondrial DNA, mitochondria and a small mitochondrial genome. Algae and plants also contain chloroplast DNA, chloroplasts with a chloroplast genome. The study of the genome is called genomics. The genomes of many organisms have been Whole-genome sequencing, sequenced and various regions have been annotated. The first genome to be sequenced was that of the virus φX174 in 1977; the first genome sequence of a prokaryote (''Haemophilus influenzae'') was published in 1995; the yeast (''Saccharomyces cerevisiae'') genome was the first eukaryotic genome to be sequenced in 1996. The Human Genome Project ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Testing
Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or through biochemical analysis to measure specific protein output. In a medical setting, genetic testing can be used to diagnose or rule out suspected genetic disorders, predict risks for specific conditions, or gain information that can be used to customize medical treatments based on an individual's genetic makeup. Genetic testing can also be used to determine biological relatives, such as a child's biological parentage (genetic mother and father) through DNA paternity testing, or be used to broadly predict an individual's ancestry. Genetic testing of plants and animals can be used for similar reasons as in humans (e.g. to assess relatedness/ancestry or predict/diagnose genetic disorders), to gain information used for selective breed ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Methylenetetrahydrofolate Reductase
Methylenetetrahydrofolate reductase (MTHFR) is the rate-limiting enzyme in the methyl cycle, and it is encoded by the ''MTHFR'' gene. Methylenetetrahydrofolate reductase catalyzes the conversion of 5,10-Methylenetetrahydrofolate, 5,10-methylenetetrahydrofolate to levomefolic acid, 5-methyltetrahydrofolate, a cosubstrate for homocysteine remethylation to methionine. Natural variation in this gene is common in otherwise healthy people. Although some variants have been reported to influence susceptibility to peripheral vascular disease, occlusive vascular disease, neural tube defects, Alzheimer's disease and other forms of dementia, Colorectal cancer, colon cancer, and acute leukemia, findings from small early studies have not been reproduced. Some mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency. Complex I deficiency with recessive spastic paraparesis has also been linked to ''MTHFR'' variants. In addition, the aberrant promoter DNA methylat ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
5,10-Methylenetetrahydrofolate
5,10-Methylenetetrahydrofolate (N5,N10-Methylenetetrahydrofolate; 5,10-CH2-THF) is cofactor in several biochemical reactions. It exists in nature as the diastereoisomer R5,10-methylene-THF. As an intermediate in one-carbon metabolism, 5,10-CH2-THF converts to 5-methyltetrahydrofolate, 5-formyltetrahydrofolate, and methenyltetrahydrofolate. It is substrate for the enzyme methylenetetrahydrofolate reductase (MTHFR), which gives 5-methyltetrahydrofolate. It is mainly produced by the reaction of tetrahydrofolate with serine, catalyzed by the enzyme serine hydroxymethyltransferase. Selected functions Formaldehyde equivalent Methylenetetrahydrofolate is a source of the equivalent of formaldehyde or CH22+ in biosyntheses. Methylenetetrahydrofolate is also an intermediate in the detoxification of formaldehyde. Pyrimidine biosynthesis It is the one-carbon donor for thymidylate synthase, for methylation of 2-deoxy-uridine-5-monophosphate (dUMP) to 2-deoxy-thymidine-5-monophosph ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
