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Benign Familial Neonatal Epilepsy
Benign familial neonatal seizures (BFNS), also referred to as benign familial neonatal epilepsy (BFNE), is a rare autosomal dominant inherited form of seizures. This condition manifests in newborns as brief and frequent episodes of tonic-clonic seizures with asymptomatic periods in between. Characteristically, seizure activity spontaneously ends during infancy and does not affect childhood development. However, some studies have reported that a minority of children with BFNS consequently develop intellectual disability. Additionally, BFNS increases lifetime susceptibility to seizures as approximately 14% of those afflicted go on to develop epilepsy later in life. There are three known genetic causes of BFNE, two being the voltage-gated potassium channels KCNQ2 (BFNC1) and KCNQ3 (BFNC2) and the third being a chromosomal inversion (BFNC3). There is no obvious correlation between most of the known mutations and clinical variability seen in BFNE. Signs and symptoms BFNS often present ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Dominant
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The first variant is termed dominant and the second is called recessive. This state of having Heterozygosity, two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or Heredity, inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes (autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Splicing (genetics)
RNA splicing is a process in molecular biology where a newly-made precursor messenger RNA (pre-mRNA) transcription (biology), transcript is transformed into a mature messenger RNA (Messenger RNA, mRNA). It works by removing all the introns (non-coding regions of RNA) and ''splicing'' back together exons (coding regions). For nuclear genes, nuclear-encoded genes, splicing occurs in the cell nucleus, nucleus either during or immediately after Transcription (biology), transcription. For those eukaryotic transcription, eukaryotic genes that contain introns, splicing is usually needed to create an mRNA molecule that can be translation (biology), translated into protein. For many eukaryotic introns, splicing occurs in a series of reactions which are catalyzed by the spliceosome, a complex of small nuclear ribonucleoproteins (snRNPs). There exist self-splicing introns, that is, ribozymes that can catalyze their own excision from their parent RNA molecule. The process of transcription, spli ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Epilepsy
Epilepsy is a group of Non-communicable disease, non-communicable Neurological disorder, neurological disorders characterized by a tendency for recurrent, unprovoked Seizure, seizures. A seizure is a sudden burst of abnormal electrical activity in the brain that can cause a variety of symptoms, ranging from brief lapses of awareness or muscle jerks to prolonged convulsions. These episodes can result in physical injuries, either directly, such as broken bones, or through causing accidents. The diagnosis of epilepsy typically requires at least two unprovoked seizures occurring more than 24 hours apart. In some cases, however, it may be diagnosed after a single unprovoked seizure if clinical evidence suggests a high risk of recurrence. Isolated seizures that occur without recurrence risk or are provoked by identifiable causes are not considered indicative of epilepsy. The underlying cause is often unknown, but epilepsy can result from brain injury, stroke, infections, Brain tumor, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sodium Channel Blocker
Sodium channel blockers are drugs which impair the conduction of sodium ions (Na+) through sodium channels. Extracellular The following naturally-produced substances block sodium channels by binding to and occluding the extracellular pore opening of the channel: * Alkaloids: ** Saxitoxin (STX) ** Neosaxitoxin (NSTX) ** Tetrodotoxin (TTX) Intracellular Drugs which block sodium channels by blocking from the intracellular side of the channel include: * Local anesthetics: ''lidocaine'' * Class I antiarrhythmic agents * Various anticonvulsants: ''phenytoin, oxcarbazepine (derivative of carbamazepine)'' Unknown mechanism * Calcium has been shown to block sodium channels which explains the effects of hypercalcemia and hypocalcemia. * Lamotrigine is known to block sodium channels but it is not known whether it is extracellular or intracellular. * Cannabidiol (CBD) has been shown to cause inhibitory effects on sodium currents. This voltage-dependent inhibition is non-selective in natu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Phenobarbital
Phenobarbital, also known as phenobarbitone or phenobarb, sold under the brand name Luminal among others, is a medication of the barbiturate type. It is recommended by the World Health Organization (WHO) for the treatment of certain types of epilepsy in developing country, developing countries. In the developed world, it is commonly used to treat seizures in neonatal, young children, while other medications are generally used in older children and adults. It is also used for veterinary purposes. It may be administered by slow intravenous therapy#Infusion, intravenous infusion (IV infusion), intramuscularly (IM), or oral administration, orally (swallowed by mouth). Subcutaneous administration is not recommended. The IV or IM (injectable forms) may be used to treat status epilepticus if other drugs fail to achieve satisfactory results. Phenobarbital is occasionally used to treat insomnia, anxiety disorder, anxiety, and benzodiazepine withdrawal (as well as withdrawal from certa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neonatal Seizure
A neonatal seizure is a seizure in a baby younger than age 4-weeks that is identifiable by an electrical recording of the brain. It is an occurrence of abnormal, paroxysmal, and persistent ictal rhythm with an amplitude of 2 microvolts in the electroencephalogram,. These may be manifested in form of stiffening or jerking of limbs or trunk. Sometimes random eye movements, cycling movements of legs, tonic eyeball movements, and lip-smacking movements may be observed. Alteration in heart rate, blood pressure, respiration, salivation, pupillary dilation, and other associated paroxysmal changes in the autonomic nervous system of infants may be caused due to these seizures. Often these changes are observed along with the observance of other clinical symptoms. A neonatal seizure may or may not be epileptic (due to a primary seizure disorder). Some of them may be provoked (i.e. due to a secondary cause). Most neonatal seizures are due to secondary causes. With hypoxic ischemic encephalopath ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Karyotype
A karyotype is the general appearance of the complete set of chromosomes in the cells of a species or in an individual organism, mainly including their sizes, numbers, and shapes. Karyotyping is the process by which a karyotype is discerned by determining the chromosome complement of an individual, including the number of chromosomes and any abnormalities. A karyogram or idiogram is a graphical depiction of a karyotype, wherein chromosomes are generally organized in pairs, ordered by size and position of centromere for chromosomes of the same size. Karyotyping generally combines light microscopy and photography in the metaphase of the cell cycle, and results in a photomicrographic (or simply micrographic) karyogram. In contrast, a schematic karyogram is a designed graphic representation of a karyotype. In schematic karyograms, just one of the sister chromatids of each chromosome is generally shown for brevity, and in reality they are generally so close together that they look as ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome 5
Chromosome 5 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 5 spans about 182 million base pairs (the building blocks of DNA) and represents almost 6% of the total DNA in cells. Chromosome 5 is the 5th largest human chromosome, yet has one of the lowest gene densities. This is partially explained by numerous gene-poor regions that display a remarkable degree of non-coding and syntenic conservation with non-mammalian vertebrates, suggesting they are functionally constrained. Because chromosome 5 is responsible for many forms of growth and development (cell divisions) changes may cause cancers. One example would be acute myeloid leukemia (AML). Genes Number of genes The following are some of the gene count estimates of human chromosome 5. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene predicti ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome Inversion
An inversion is a chromosome rearrangement in which a segment of a chromosome becomes inverted within its original position. An inversion occurs when a chromosome undergoes a two breaks within the chromosomal arm, and the segment between the two breaks inserts itself in the opposite direction in the same chromosome arm. The breakpoints of inversions often happen in regions of repetitive nucleotides, and the regions may be reused in other inversions. Chromosomal segments in inversions can be as small as 1 kilobases or as large as 100 megabases. The number of genes captured by an inversion can range from a handful of genes to hundreds of genes. Inversions can happen either through ectopic recombination between Repeated sequence (DNA), repetitive sequences, or through chromosomal breakage followed by non-homologous end joining. Inversions are of two types: paracentric inversion, paracentric and pericentric inversion, pericentric. Paracentric inversions do not include the centromere, a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PubMed
PubMed is an openly accessible, free database which includes primarily the MEDLINE database of references and abstracts on life sciences and biomedical topics. The United States National Library of Medicine (NLM) at the National Institutes of Health maintains the database as part of the Entrez system of information retrieval. From 1971 to 1997, online access to the MEDLINE database was provided via computer and phone lines primarily through institutional facilities, such as university libraries. PubMed, first released in January 1996, ushered in the era of private, free, home- and office-based MEDLINE searching. The PubMed system was offered free to the public starting in June 1997. Content In addition to MEDLINE, PubMed provides access to: * older references from the print version of '' Index Medicus'', back to 1951 and earlier * references to some journals before they were indexed in Index Medicus and MEDLINE, for instance ''Science'', '' BMJ'', and ''Annals of Surg ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Proteolysis
Proteolysis is the breakdown of proteins into smaller polypeptides or amino acids. Protein degradation is a major regulatory mechanism of gene expression and contributes substantially to shaping mammalian proteomes. Uncatalysed, the hydrolysis of peptide bonds is extremely slow, taking hundreds of years. Proteolysis is typically catalysed by cellular enzymes called proteases, but may also occur by intra-molecular digestion. Proteolysis in organisms serves many purposes; for example, digestive enzymes break down proteins in food to provide amino acids for the organism, while proteolytic processing of a polypeptide chain after its synthesis may be necessary for the production of an active protein. It is also important in the regulation of some physiological and cellular processes including apoptosis, as well as preventing the accumulation of unwanted or misfolded proteins in cells. Consequently, abnormality in the regulation of proteolysis can cause diseases. Proteolysis can also ... [...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] |
