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Ganaxolone
Ganaxolone, sold under the brand name Ztalmy, is a medication used to treat seizures in people with cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD). Ganaxolone was approved for medical use in the United States in March 2022. Pharmacology Mechanism of action The exact mechanism of action for ganaxolone is unknown; however, results from animal studies suggest that it acts by blocking seizure propagation and elevating seizure thresholds. Ganaxolone is thought to modulate both synaptic and extrasynaptic GABAA receptors to normalize over-excited neurons. Ganaxolone's activation of the extrasynaptic receptor is an additional mechanism that provides stabilizing effects that potentially differentiates it from other drugs that increase GABA signaling. Ganaxolone binds to allosteric sites of the GABAA receptor to modulate and open the chloride ion channel, resulting in a hyperpolarization of the neuron. This causes an inhibitory effect on neurotransmission, reduc ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neurosteroid
Neurosteroids, also known as neuroactive steroids, are endogenous or exogenous steroids that rapidly alter neuronal excitability through interaction with ligand-gated ion channels and other cell surface receptors. The term ''neurosteroid'' was coined by the French physiologist Étienne-Émile Baulieu and refers to steroids synthesized in the brain. The term, ''neuroactive steroid'' refers to steroids that can be synthesized in the brain, or are synthesized by an endocrine gland, that then reach the brain through the bloodstream and have effects on brain function. The term neuroactive steroids was first coined in 1992 by Steven Paul and Robert Purdy. In addition to their actions on neuronal membrane receptors, some of these steroids may also exert effects on gene expression via nuclear steroid hormone receptors. Neurosteroids have a wide range of potential clinical applications from sedation to treatment of epilepsy and traumatic brain injury. Ganaxolone, a synthetic analog of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cyclin-dependent Kinase-like 5 Deficiency Disorder
CDKL5 deficiency disorder (CDD) is a rare genetic disorder caused by pathogenic variants in the gene CDKL5. Signs and symptoms The symptoms of CDD include early infantile onset refractory epilepsy; hypotonia; developmental, intellectual, and motor disabilities, with little or no speech; and cortical visual impairment. Patients usually present first with seizures within the first months of life, followed by infantile spasms which progress to epileptic seizures that are largely refractory to treatment. Development of gross motor skills, such as sitting, standing, and walking, is severely delayed, along with restricted fine motor skills. About one-third of affected individuals can ambulate with assistance, but most CDD patients rely on wheelchairs. Additional features include repetitive hand movements ( stereotypies), such as clapping, hand licking, and hand sucking; tooth grinding ( bruxism); disrupted sleep; feeding difficulties; gastrointestinal problems including constipation a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Epilepsy-intellectual Disability In Females
Epilepsy-intellectual disability in females also known as PCDH19 gene-related epilepsy or epileptic encephalopathy, early infantile, 9 (EIEE9), is a rare type of epilepsy that affects predominately females and is characterized by clusters of brief seizures, which start in infancy or early childhood, and is occasionally accompanied by varying degrees of cognitive impairment. The striking pattern of onset seizures at a young age, genetic testing and laboratory results, potential developmental delays or developmental regression and associated disorders, eases diagnosis. The National Institutes of Health Office and Rare Disease Research characterizes PCDH19 gene-related epilepsy as a rare disorder. Although formal epidemiologic data is not available, results from diagnostic screenings indicate that approximately 1 out of 10 girls who have seizure onset before five years of age may have PCDH19 mutations. Signs and symptoms PCDH19 gene-related epilepsy is a highly variable and rare e ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Alfadolone
Alfadolone ( INN), or alphadolone is a neuroactive steroid and general anesthetic. Along with alfaxolone, as alfadolone acetate, it is one of the components of the anesthetic drug mixture althesin. Chemistry See also * Ganaxolone * Hydroxydione * Minaxolone * Pregnanolone * Renanolone Renanolone (INN), or 11-ketopregnanolone, also known as 5β-pregnan-3α-ol-11,20-dione, is a synthetic neuroactive steroid which is described as a general anesthetic but was never introduced for clinical use. Its isomers, alfaxolone and alfadolon ... References General anesthetics Neurosteroids GABAA receptor positive allosteric modulators Pregnanes {{nervous-system-drug-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Renanolone
Renanolone ( INN), or 11-ketopregnanolone, also known as 5β-pregnan-3α-ol-11,20-dione, is a synthetic neuroactive steroid which is described as a general anesthetic but was never introduced for clinical use. Its isomers, alfaxolone and alfadolone, are also general anesthetics, and are known to act as positive allosteric modulators of the GABAA receptor, a property which is likely the case for renanolone as well. Chemistry See also * Alfadolone * Alfaxolone * Ganaxolone * Hydroxydione * Minaxolone * Pregnanolone Pregnanolone, also known as eltanolone, is an endogenous inhibitory neurosteroid which is produced in the body from progesterone. It is closely related to allopregnanolone, which has similar properties. Biological activity Pregnanolone is a ... References 5β-Pregnanes General anesthetics Neurosteroids Secondary alcohols Diketones GABAA receptor positive allosteric modulators {{Nervous-system-drug-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Minaxolone
Minaxolone (CCI-12923) is a neuroactive steroid which was developed as a general anesthetic but was withdrawn before registration due to toxicity seen with long-term administration in rats, and hence was never marketed. It is a positive allosteric modulator of the GABAA receptor, as well as, less potently, a positive allosteric modulator of the glycine receptor. Chemistry See also * Alfadolone * Alfaxolone * Ganaxolone * Hydroxydione * Pregnanolone * Renanolone Renanolone ( INN), or 11-ketopregnanolone, also known as 5β-pregnan-3α-ol-11,20-dione, is a synthetic neuroactive steroid which is described as a general anesthetic but was never introduced for clinical use. Its isomers, alfaxolone and alfadolon ... References General anesthetics Neurosteroids Secondary alcohols Ethers Dimethylamino compounds Ketones GABAA receptor positive allosteric modulators Glycine receptor agonists Pregnanes {{nervous-system-drug-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Positive Allosteric Modulator
In pharmacology and biochemistry, allosteric modulators are a group of substances that bind to a receptor to change that receptor's response to stimulus. Some of them, like benzodiazepines, are drugs. The site that an allosteric modulator binds to (i.e., an ''allosteric site'') is not the same one to which an endogenous agonist of the receptor would bind (i.e., an ''orthosteric site''). Modulators and agonists can both be called receptor ligands. Allosteric modulators can be 1 of 3 types either: positive, negative or neutral. Positive types increase the response of the receptor by increasing the probability that an agonist will bind to a receptor (i.e. affinity), increasing its ability to activate the receptor (i.e. efficacy), or both. Negative types decrease the agonist affinity and/or efficacy. Neutral types don't affect agonist activity but can stop other modulators from binding to an allosteric site. Some modulators also work as allosteric agonists. The term "allosteric" deriv ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fragile X Syndrome
Fragile X syndrome (FXS) is a genetic disorder characterized by mild-to-moderate intellectual disability. The average IQ in males with FXS is under 55, while about two thirds of affected females are intellectually disabled. Physical features may include a long and narrow face, large ears, flexible fingers, and large testicles. About a third of those affected have features of autism such as problems with social interactions and delayed speech. Hyperactivity is common, and seizures occur in about 10%. Males are usually more affected than females. This disorder and finding of Fragile X syndrome has an X-linked dominant inheritance. It is typically caused by an expansion of the CGG triplet repeat within the '' FMR1'' (fragile X messenger ribonucleoprotein 1) gene on the X chromosome. This results in silencing ( methylation) of this part of the gene and a deficiency of the resultant protein (FMRP), which is required for the normal development of connections between neurons. D ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Infantile Spasms
Epileptic spasms is an uncommon-to-rare epileptic disorder in infants, children and adults. One of the other names of the disorder, West syndrome, is in memory of the English physician, William James West (1793–1848), who first described it in an article published in ''The Lancet'' in 1841. The original case actually described his own son, James Edwin West (1840–1860). Other names for it are "generalized flexion epilepsy", "infantile epileptic encephalopathy", "infantile myoclonic encephalopathy", "jackknife convulsions", "massive myoclonia" and "Salaam spasms". The term "infantile spasms" can be used to describe the specific seizure manifestation in the syndrome, but is also used as a synonym for the syndrome itself. West syndrome in modern usage is the triad of infantile spasms, a pathognomonic EEG pattern (called hypsarrhythmia), and developmental regression – although the international definition requires only two out of these three elements. The syndrome is age-relat ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Partial Seizure
Focal seizures (also called partial seizures and localized seizures) are seizures which affect initially only one hemisphere of the brain. The brain is divided into two hemispheres, each consisting of four lobes – the frontal, temporal, parietal and occipital lobes. A focal seizure is generated in and affects just one part of the brain – a whole hemisphere or part of a lobe. Symptoms will vary according to where the seizure occurs. When seizures occur in the frontal lobe the patient may experience a wave-like sensation in the head. When seizures occur in the temporal lobe, a feeling of déjà vu may be experienced. When seizures are localized to the parietal lobe, a numbness or tingling may occur. With seizures occurring in the occipital lobe, visual disturbances or hallucinations have been reported. , Epilepsy ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fatigue (medical)
Fatigue describes a state of tiredness that does not resolve with rest or sleep. In general usage, fatigue is synonymous with extreme tiredness or exhaustion that normally follows prolonged physical or mental activity. When it does not resolve after rest or sleep, or occurs independently of physical or mental exertion, it may be a symptom of a medical condition that may become severe or progressive. Fatigue can be a feature of a mental disorder such as depression; may be associated with conditions of chronic pain such as fibromyalgia; it may also feature in conditions of chronic low-level inflammation, and be a disease-related symptom in many other conditions. Fatigue often has no known cause, and is recognised as being very complex in nature. Fatigability describes a susceptibility to fatigue. Physical fatigue results from muscle fatigue brought about by intense physical activity. Mental fatigue results from prolonged periods of cognitive activity which impairs cognitive ab ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dizziness
Dizziness is an imprecise term that can refer to a sense of disorientation in space, vertigo, or lightheadedness. It can also refer to disequilibrium or a non-specific feeling, such as giddiness or foolishness. Dizziness is a common medical complaint, affecting 20-30% of persons. Dizziness is broken down into 4 main subtypes: vertigo (~25-50%), disequilibrium (less than ~15%), presyncope (less than ~15%), and nonspecific dizziness (~10%). * Vertigo is the sensation of spinning or having one's surroundings spin about them. Many people find vertigo very disturbing and often report associated nausea and vomiting. * Presyncope describes lightheadedness or feeling faint; the name relates to syncope, which is actually fainting. * Disequilibrium is the sensation of being off balance and is most often characterized by frequent falls in a specific direction. This condition is not often associated with nausea or vomiting. * Non-specific dizziness may be psychiatric in origin. It is ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
