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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] |
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] |
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] |
Gabapentin
Gabapentin, sold under the brand name Neurontin among others, is an anticonvulsant medication primarily used to treat neuropathic pain and also for partial seizures of epilepsy. It is a commonly used medication for the treatment of neuropathic pain caused by diabetic neuropathy, postherpetic neuralgia, and central pain. It is moderately effective: about 30–40% of those given gabapentin for diabetic neuropathy or postherpetic neuralgia have a meaningful benefit. Gabapentin, like other gabapentinoid drugs, acts by decreasing activity of the α2δ-1 protein, coded by the CACNA2D1 gene, first known as an auxiliary subunit of voltage gated calcium channels. However, see Pharmacodynamics, below. By binding to α2δ-1, gabapentin reduces the release of excitatory neurotransmitters (primarily glutamate) and as a result, reduces excess excitation of neuronal networks in the spinal cord and brain. Sleepiness and dizziness are the most common side effects. Serious side effects in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Carbamazepine
Carbamazepine, sold under the brand name Tegretol among others, is an anticonvulsant medication used in the treatment of epilepsy and neuropathic pain. It is used as an adjunctive treatment in schizophrenia along with other medications and as a Therapy#Lines of therapy, second-line agent in bipolar disorder. Carbamazepine appears to work as well as phenytoin and valproate for focal and generalized seizures. It is not effective for absence seizure, absence or myoclonic seizures. Carbamazepine was discovered in 1953 by Swiss chemist Walter Schindler. It was first marketed in 1962. It is available as a generic medication. It is on the WHO Model List of Essential Medicines, World Health Organization's List of Essential Medicines. In 2020, it was the 185th most commonly prescribed medication in the United States, with more than 2million prescriptions. Photoswitchable analogues of carbamazepine have been developed to control its pharmacological activity locally and on demand using ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ketogenic Diet
The ketogenic diet is a high-fat, adequate-protein, low-carbohydrate diet, low-carbohydrate dietary therapy that in conventional medicine is used mainly to treat hard-to-control (refractory) epilepsy in children. The diet forces the body to burn fats rather than carbohydrates. Normally, carbohydrates in food are converted into glucose, which is then transported around the body and is important in Brain metabolism, fueling brain function. However, if only a little carbohydrate remains in the diet, the liver converts triacylglycerol, fat into fatty acids and ketone bodies, the latter passing into the brain and replacing glucose as an energy source. An elevated level of ketone bodies in the blood (a state called ketosis) eventually lowers the frequency of epileptic seizures. Around half of children and young people with epilepsy who have tried some form of this diet saw the number of seizures drop by at least half, and the effect persists after discontinuing the diet. Some eviden ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Valproate
Valproate (valproic acid, VPA, sodium valproate, and valproate semisodium forms) are medications primarily used to treat epilepsy and bipolar disorder and prevent migraine headaches. They are useful for the prevention of seizures in those with absence seizures, partial seizures, and generalized seizures. They can be given intravenously or by mouth, and the tablet forms exist in both long- and short-acting formulations. Common side effects of valproate include nausea, vomiting, somnolence, and dry mouth. Serious side effects can include liver failure, and regular monitoring of liver function tests is therefore recommended. Other serious risks include pancreatitis and an increased suicide risk. Valproate is known to cause serious abnormalities or birth defects in the unborn child if taken during pregnancy, and is contra-indicated for women of childbearing age unless the drug is essential to their medical condition and the person is also prescribed a contraceptive. Reproductive ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Topiramate
Topiramate, sold under the brand name Topamax among others, is a medication used to treat epilepsy and prevent migraines. It has also been used for alcohol dependence and essential tremor. For epilepsy, this includes treatment for generalized or focal seizures. It is taken orally (by mouth). Common side effects include tingling, feeling tired, loss of appetite, abdominal pain, weight loss, and decreased cognitive function such as trouble concentrating. Serious side effects may include suicide, increased ammonia levels resulting in encephalopathy, and kidney stones. Topiramate can cause birth defects, including cleft lip and palate. Risks/benefits should be carefully discussed with the full treatment team. Topiramate is considered "probably compatible" with lactation and is not contraindicated for breastfeeding, though monitoring of the infant for diarrhea or poor weight gain may be considered. The mechanism of action is unclear. Topiramate was approved for medical us ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Stiripentol
Stiripentol, sold under the brand name Diacomit, is an anticonvulsant medication used for the treatment of Dravet syndrome - a serious genetic brain disorder. The most common side effects include loss of appetite, weight loss, insomnia (difficulty sleeping), drowsiness, ataxia (inability to co‑ordinate muscle movements), hypotonia (low muscle strength) and dystonia (muscle disorders). Medical uses In the European Union, stiripentol is indicated for use in conjunction with clobazam and valproate as adjunctive therapy of refractory generalized tonic-clonic seizures in people with severe myoclonic epilepsy in infancy (SMEI, Dravet's syndrome) whose seizures are not adequately controlled with clobazam and valproate. Text was copied from this source which is copyright European Medicines Agency. Reproduction is authorized provided the source is acknowledged. In the United States, stiripentol is indicated for the treatment of seizures associated with Dravet syndrome in people two y ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Clobazam
Clobazam, sold under the brand names Frisium, Onfi and others, is a benzodiazepine class medication that was patented in 1968. Clobazam was first synthesized in 1966 and first published in 1969. Clobazam was originally marketed as an anxioselective anxiolytic since 1970, and an anticonvulsant since 1984. The primary drug-development goal was to provide greater anxiolytic, anti-obsessive efficacy with fewer benzodiazepine-related side effects. Medical uses Clobazam is used for its anxiolytic effect, and as an adjunctive therapy in epilepsy. As an adjunctive therapy in epilepsy, it is used in patients who have not responded to first-line drugs and in children who are refractory to first-line drugs. It is unclear if there are any benefits to clobazam over other seizure medications for children with Rolandic epilepsy or other epileptic syndromes. It is not recommended for use in children between the ages of six months and three years, unless there is a compelling need. In additi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Electroencephalography
Electroencephalography (EEG) is a method to record an electrogram of the spontaneous electrical activity of the brain. The biosignal, bio signals detected by EEG have been shown to represent the postsynaptic potentials of pyramidal neurons in the neocortex and allocortex. It is typically non-invasive, with the EEG electrodes placed along the scalp (commonly called "scalp EEG") using the 10–20 system (EEG), International 10–20 system, or variations of it. Electrocorticography, involving surgical placement of electrodes, is sometimes called Electrocorticography, "intracranial EEG". Clinical interpretation of EEG recordings is most often performed by visual inspection of the tracing or quantitative EEG, quantitative EEG analysis. Voltage fluctuations measured by the EEG bioamplifier, bio amplifier and electrodes allow the evaluation of normal Brain activity and meditation, brain activity. As the electrical activity monitored by EEG originates in neurons in the underlying Huma ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dravet Syndrome Foundation
The Dravet Syndrome Foundation (DSF) is a volunteer-run, non-profit organization based in the United States. The mission of the foundation is to raise research funds for Dravet's syndrome and related epilepsies, while providing support to affected individuals and families. The Dravet Syndrome Foundation is listed as a research and support organization on National Organization of Rare Diseases's (NORD) database. History The Dravet Syndrome Foundation was founded by parents with the purpose of expediting research to find a cure and better treatments for their afflicted children. It was established in the state of Connecticut and was designated a tax-exempt public charity in the United States in September 2009 by the Internal Revenue Service under Section 501(c)(3). Programs The Dravet Syndrome Foundation focuses its work in four areas: research grants; Research Roundtable; International Ion Channel Epilepsy Patient Registry (IICEPR); and the International Patient Assistan ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
