Cause still unexplained
When the evaluation does not find an acquired cause or a structural change that explains the crises, genetic testing can help look for the cause.
Patients and families Care journey
Genetic testing in childhood epilepsy
When the cause of seizures is not clear, exome, genome or other tests can help look for an explanation. A diagnosis can contribute to prognosis, monitoring and, in some cases, therapeutic decisions.
Research seeks answers without reducing the child to a health condition.
When to talk
When genetics can add answers to research.
Epilepsy may have structural, infectious, metabolic, immune, genetic causes or remain unexplained. The indication for the test is individual and considers the type of epilepsy, other signs and the tests already carried out.
Early onset, severe condition or developmental differences
Crises that begin in the newborn or early childhood period, especially with delay, intellectual disability, autism, regression or other signs, may increase the relevance of genetic evaluation.
Progressive evolution or difficult-to-control crises
Loss of abilities, progressive neurological worsening, or seizures that continue despite adequate treatment require specialized evaluation and may prompt genetic and metabolic testing.
Family history
Relatives with epilepsy, similar seizures, intellectual disability, or a known molecular diagnosis can help understand the suspicion.
What a diagnosis can add: help define or refine the cause, inform evolution and follow-up, support therapeutic decisions in specific situations and guide the family. The impact varies depending on the gene, variant and clinical picture; Not every result changes the treatment.
Choice of test
From the most appropriate test to talking about the result.
Many different genes may be associated with similar presentations of epilepsy. Broad tests allow you to evaluate multiple hypotheses at once, but a panel or targeted examination may still be appropriate in specific situations.
Parts of genes that make proteins
It mainly evaluates the parts of genes used to produce proteins. The ability to detect losses, duplications, and other types of changes depends on the examination.
Broader investigation
Analyzes a larger area of DNA and more types of alterations. More data does not mean a guaranteed answer.
Family comparison
When indicated and possible, analyzing the child and biological parents can facilitate the identification of new variants and the interpretation of inheritance.
Technical limit: DNA repeats, chemical changes in DNA, changes present in only part of the cells, mitochondrial changes, or changes restricted to certain tissues may require specific methods and samples. The report must describe the scope of the examination carried out.
Compare exome and genomeTest day
Four steps in a coordinated investigation.
The test begins with a well-recorded health question and ends with a conversation about the result in the context of the child.
Assessment, tests and history
The professional characterizes the episodes, age of onset, development, EEG, images, treatments and family history.
Choice and consent
The person responsible receives guidance on what the test analyzes, its limits, possible results and the use of data. The child or adolescent participates in the decision when possible, with an age-appropriate explanation.
sample collection and analysis
The team guides the appropriate sample, and the laboratory correlates the variants to clinical data within the scope of the method. Each family member separately authorizes the use of their sample and data.
Result and follow-up
The professional explains the report and evaluates upcoming tests, follow-up, evaluation of family members or future review.
Results and limits
The result does not work as a treatment recipe.
Even a molecular diagnosis needs to be related to the type of crisis, EEG, imaging, development and clinical response of the child.
- 01
Diagnostic result
An alteration classified in the report as pathogenic (disease-causing) or probably pathogenic can explain the condition when it matches the signs and what is known about the gene.
- 02
Negative or inconclusive result
Examination may not find a cause. This does not exclude all genetic conditions or invalidate the clinical diagnosis of epilepsy.
- 03
Variant of uncertain meaning
A VUS does not confirm the cause and should not prompt medication change, surgery, surveillance, prognosis or predictive testing in family members. If reported in a NeoGenomica examination, it remains accompanied by Infinity VUS.
Immediate service
What to do during a seizure.
These guidelines are for first aid. Genetic investigation takes place after stabilization and clinical evaluation.
- Time
Time and protect
Move objects away, protect your head with something soft, loosen tight clothing around your neck and stay at your side. Gently turn the person onto their side when it is safe.
- Never
Do not contain or put anything in your mouth
Don't hold back the movements. Do not offer objects, food, liquids or medicine yourself. If rescue medication is prescribed, follow the plan you receive exactly.
- 192
Call SAMU
Call 192 if it is your first crisis, lasts more than five minutes, another crisis starts without complete recovery, there is difficulty breathing, injury or immediate risk.
- After
Follow until recovery
Observe breathing and remain close until the person regains consciousness. Follow SAMU's guidelines and seek the indicated assessment.
Frequently asked questions
Before deciding to test.
Does a seizure mean my child has epilepsy?
Not necessarily. A crisis can have different causes, and some events that look like crises have another origin. The characterization must be carried out by a health professional; the first crisis also deserves urgent assessment.
Is all epilepsy genetic or hereditary?
No. Epilepsy can have structural, infectious, metabolic, immune, genetic or unknown causes. Furthermore, a genetic cause may arise for the first time in the child and not be inherited.
Does the test replace EEG or MRI?
No. These tests evaluate different aspects. The investigation may include EEG, imaging, laboratory tests, metabolic and genetic evaluation according to clinical evaluation.
Can the result change the medicine?
In some conditions and for certain mechanisms, a diagnosis can support therapeutic decisions. This does not happen in all cases and any change must be led by the neurologist.
Why test parents?
The comparison can show whether a variant was inherited or emerged in the child and help assess its relevance. The strategy depends on the test and the family's availability.
For patients and families
Information for each stage of the journey.
Start with the topic that comes closest to your question.
