Epilepsy

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Disease Ontology 11 DOID:1826 ICD9CM 34 345.9 MeSH 43 D004827 NCIt 49 C3020 SNOMED-CT 68 267698007

ICD10 31 G40 G40.9 Orphanet 58 ORPHA166463 EFO 16 EFO_0000474 ICD11 33 1007173668 1026250133 1026250133/other 1026250133/unspecified 1279568297 1315841508 1498700468 1617454151 1742216565 179860715 194732378 2073711696 2073711696/other 2073711696/unspecified 2077722839 256917143 480321034 512463425 836532562 more UMLS 71 C0014544

NINDS: ⁵² The epilepsies are a spectrum of brain disorders ranging from severe, life-threatening and disabling, to ones that are much more benign. In epilepsy, the normal pattern of neuronal activity becomes disturbed, causing strange sensations, emotions, and behavior or sometimes convulsions, muscle spasms, and loss of consciousness. The epilepsies have many possible causes and there are several types of seizures. Anything that disturbs the normal pattern of neuron activity—from illness to brain damage to abnormal brain development—can lead to seizures. Epilepsy may develop because of an abnormality in brain wiring, an imbalance of nerve signaling chemicals called neurotransmitters, changes in important features of brain cells called channels, or some combination of these and other factors. Having a single seizure as the result of a high fever (called febrile seizure) or head injury does not necessarily mean that a person has epilepsy. Only when a person has had two or more seizures is he or she considered to have epilepsy. A measurement of electrical activity in the brain and brain scans such as magnetic resonance imaging or computed tomography are common diagnostic tests for epilepsy.

MalaCards based summary: Epilepsy, also known as epilepsy syndrome, is related to epilepsy, myoclonic juvenile and childhood absence epilepsy, and has symptoms including tremor, back pain and headache. An important gene associated with Epilepsy is SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1), and among its related pathways/superpathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and Neuroscience. The drugs Acetazolamide and Rituximab have been mentioned in the context of this disorder. Affiliated tissues include brain, temporal lobe and thalamus, and related phenotypes are nervous system and growth/size/body region

PubMed Health : ⁶³ Epilepsy: In epilepsy, certain areas of the brain or all areas of the brain are overactive, sending too many signals. This results in seizures, sometimes also referred to as epileptic fits. Epileptic seizures can take different forms. They may cause only a few muscles to twitch, for instance, or they may cause your whole body to convulse (shake uncontrollably) and lead to loss of consciousness. Epilepsy can arise at any age. Some people have their first seizure in childhood, and others have their first seizure in older age. There are usually no physical symptoms in between seizures. But the constant fear of having another seizure may affect your work and private life. Medication can help to prevent seizures and maintain a good quality of life. Unfortunately, medication doesn't always help, though: About 3 out of 10 people still have regular seizures. This makes it particularly difficult for them to live with the condition.

MedlinePlus: ⁴¹ Epilepsy is a brain disorder that causes people to have recurring seizures. The seizures happen when clusters of nerve cells, or neurons, in the brain send out the wrong signals. People may have strange sensations and emotions or behave strangely. They may have violent muscle spasms or lose consciousness. Epilepsy has many possible causes, including illness, brain injury, and abnormal brain development. In many cases, the cause is unknown. Doctors use brain scans and other tests to diagnose epilepsy. It is important to start treatment right away. There is no cure for epilepsy, but medicines can control seizures for most people. When medicines are not working well, surgery or implanted devices such as vagus nerve stimulators may help. Special diets can help some children with epilepsy. NIH: National Institute of Neurological Disorders and Stroke

Disease Ontology: ¹¹ A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.

CDC: ² Epilepsy is a broad term used for a brain disorder that causes seizures. There are many different types of epilepsy. There are also many different kinds of seizures.

Wikipedia: ⁷⁵ Epilepsy is a group of non-communicable neurological disorders characterized by recurrent epileptic... more...

The most suitable kind of treatment for a specific person will depend on the type of epilepsy they have and the course of their disease so far. Epilepsy is usually treated with medication known as anti-epileptic drugs (AEDs). These include various medications from different groups of drugs. If a certain medication doesn’t work when a low dose is used, the dose can be increased. If it still doesn’t work, a medication from a different group of drugs can be tried out or several medications can be used together. Seizures are often one-off events so no treatment is needed at first. People usually only start treatment if they have a second seizure . But certain people, for instance those with a brain disease, are more likely to have further seizures. In those cases it might be a good idea to start treatment after the first seizure. This will greatly depend on the person’s individual situation. It is important to discuss all the options with your doctor. People who decide to take medication usually take it for many years. Some people can try to stop taking medication after a while if they have not had any seizures for several years. Others have to take medication for the rest of their lives. If seizures can’t be prevented with medication, a surgical procedure may be considered. The options include: Brain surgery : If someone has partial seizures and it is clear which part of the brain is triggering them, that part of the brain can be surgically removed. But this is not always possible. Vagus nerve stimulation: In this procedure, a pacemaker -like device is implanted under the skin of your chest , where it produces electrical signals. It is connected to the vagus nerve in your neck and is meant to prevent the nerve cells from being too active. The treatment is overseen by a neurologist . Children and teenagers with epilepsy will see a pediatric neurologist. Some of the diagnostic tests and treatments are often carried out in a hospital. There are outpatient facilities and clinics that specialize in treatments for people with epilepsy (e.g. epilepsy centers, specialized hospital departments or doctors’ practices). These are particularly suitable if you have a specific problem, if the diagnosis is not clear, or if you keep on having seizures despite treatment. When people with epilepsy have seizures they do not usually need treatment . The most important thing that helpers can do is stay calm and prevent injury . If the seizure lasts longer than five minutes or if several seizures occur within a short space of time, the emergency services should be informed (e.g. by calling 112 in Germany and most European countries, or 911 in the U.S.). Severe epileptic seizures may require a hospital stay.

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Anti-epileptic Agent [EPC] Divalproex Sodium Ethosuximide Ethotoin felbamate fosphenytoin Fosphenytoin sodium gabapentin gabapentin enacarbil lacosamide lamotrigine Levetiracetam Mephenytoin methsuximide

oxcarbazepine Phenytoin Phenytoin sodium PHENYTOIN SODIUM,EXTENDED PHENYTOIN SODIUM,PROMPT Primidone Sodium Valproate tiagabine Tiagabine hydrochloride topiramate Trimethadione Valproic Acid Vigabatrin zonisamide