Doctor insights on:
Mutation That Cause Epilepsy
How can you have a SCN1A MUTATION and not have epilepsy or siezures? Is this possible? The person is 27 and it was found with whole exome.
Yes: this is the problem of offering whole exome testing to the public without genetic counseling. The test examines known genes and determines whether a variant from the norm is present. If present in a gene which can cause disease, the following question must be answered: is it disease-producing, a benign variant, or do we know enough about it to say?Call the testing lab for an answer ...Read more
In genetics, a mutation is a change in the nucleotide sequence of the genome of an organism, virus, or extrachromosomal genetic element. Mutations result from unrepaired damage to dna or to RNA genomes (typically caused by radiation or chemical mutagens), from errors in the process of replication, or from the insertion or deletion of segments of dna ...Read more
No: Video games do not cause epilepsy, however they may unmask a pre-exisitng seizure disorder. The different lights and sounds may trigger seizures in some susceptible children. Make sure your child has less than 2 hrs of screen (iphone, video, computer) time a day. ...Read moreSee 1 more doctor answer
Often none!: "Absence seizures" are often not associated with any other syndrome. Sometimes there is known cause. Sometimes kids who have febrile seizures seem to develop petit mal seizures. Sometimes it's hereditary and there is a family history of petit-mal seizures. See http://www.mayoclinic.org/diseases-conditions/petit-mal-seizure/basics/causes/con-20021252 People with porphyria can have petit-mal. ...Read more
My child has been diagnosed with epilepsy and is on meds. Can flying overseas cause a problem due to the altitude?
Meet with Docs: You might want to meet with your doc at least a month before you travel so you can discuss changes in med schedules as you will be traveling to a different time zone. Also discuss how and who to contact in case of an emergency. The altitude is not a problem since cabins are pressurized, the problem may be that kids may get off schedules and get to stressed, tired and hungry. Stick to his schedule. ...Read moreSee 1 more doctor answer
Causes of a seizure: There are many things that can cause a seizure. Anything that irritates the surface of the brain for example may be a cause. Alcohol may be a cause. Medication side effects may be a cause. The cause of a single isolated seizure is sometimes not determined with the tests we have however. ...Read more
Many things: Medications, salt balance in the blood, certain drugs...to name a few ...Read more
Brain hyperexcitable: The exact cause & mechanism may be unknown most of the time. Conditions such as cerebral infarct, brain tumor, increased intracranial pressure b/c of any reason, infection of the brain or meninges of brain, metabolic disturbances, eg. Hypoglycemia, electrolyte abnormalities, head injury causing concussion or coupe contrecoup brain injury, aneurysms or a/v malformation, benign increase in icp, etc. ...Read more
Abnormal nerves: epilepsy is due to a group of nerves in the brain firing out of synchrony with the normal, firing nerves in the brain. can be caused by scar tissue in the nerves caused by any type of trauma, such as stroke, head injury, brain tumor, or some people for some reason are born with it. some theorize that people with epilepsy are born with the propensity to have abnormally firing nerves. ...Read more
Epilepsy: Epilepsy has no identifiable cause in about half of those with the condition. In about half the people with epilepsy, the condition may be traced to various factors, such as, genetic influence, head trauma, brain conditions, infectious disease, prenatal injury, and developmental disorders. ...Read more
Brain pathology: Invariably, this is due to abnormal brain electrical-chemical functioning, and there may be localized abnormal brain tissue or more diffuse brain glutamate excitotoxicity. There is some hereditary susceptibility in many cases, and brain injuries and congenital lesions are often culprits. Any disorder causing brain damage can promote seizures. ...Read moreSee 1 more doctor answer
Come again?: Not really sure what you mean. Please repost and explain what you mean by "vegetive state synptoms." I would also highly recommend that you type out your question in Microsoft Word and run your spell-checker on it before you copy and paste it into the HealthTap question box. Correctly spelling the words in your post might render them understandable and actually answerable. ...Read moreSee 1 more doctor answer
Short circuits...: The answers to your post are too numerous for 400 characters; the underlying cause of epilepsy is basically a short circuit in one's brain. There are a variety of 'triggers' from fever, to stress, to medications, and so on. My advice is to consult with your doctor for more information on the topic; even a discussion with your friendly, neighborhood neurologist would be in order. ...Read moreSee 1 more doctor answer
Not really : There is always a cause, as abnormal brain tissue is the culprit in all cases, but we doctors don't always easily uncover causation. Quite common is nerve injury via head trauma, but there are congenital malformations, blood vessel abnormalities, prior encephalitis or meningitis, or even toxic effects of meds or recreational drugs. Sudden stopping of alcohol may also be impactful. ...Read more
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