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
Several disorders: Epilepsy (recurring seizures) can occur in several different types of inherited biochemical diseases, including organic acidemias, urea cycle disorders, fatty acid oxidation defects, and biotinidase deficiency. Temporal lobe seizures, often with sensory or auditory hallucinations, are usually not metabolic but may run in a family which is passing a genetic mutation from one generation to the next. ...Read more
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
Brain attacks: Epilepsy is a clinical condition of a risk for seizure events. It affects at least 1.5 percent of adults. Causes include genetics, brain injury, drug toxicity, metabolic disorders, cancer, stroke, degenerative diseases, etc. Up to 30 percent have no definite cause. ...Read moreSee 1 more doctor answer
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 moreSee 1 more doctor answer
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 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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