Is your child experiencing seizures and your doctor can’t tell you why?

Whether it’s staring off, unusual jerking movements, shaking, drop attacks, or something else – a genetic factor may be an underlying cause.

Find out if your child’s symptoms may be linked to a genetic condition by taking our assessment and start taking control of your loved one’s medical journey.


Key characteristics and other common symptoms of seizures

Atonic seizures

Muscles suddenly become limp, eye lids may droop, or the head may nod or drop forward. If the person is standing, they often fall to the floor.

Tonic/clonic seizures

Symptoms can involve the entire body, or just be one side or one limb. Symptoms can vary from a rapid jerking, followed by a very relaxed body, and then back to jerking again. The jaw muscle can clench which can interfere with breathing or cause them to bite their tongue. These can be called, “fits or convulsions”.

Absence seizures

Symptoms just look like they are staring off into space or have repetitive movements like lip smacking.

Nocturnal seizures

Some people have these which typically happen at night. Some experience frightening images and shortness of breath or screaming. These can be called sleep terrors. Sleep walking and bed-wetting are more common in children.

Febrile Seizures

Febrile seizures happen when the person has a high fever. Simple febrile seizures can be generalized full body convulsions, typically last less than 15 minutes, and no more than once in a 24-hour period. Complex or complicated febrile seizures typically start with one body part moving independently of others, they can last more than 15 minutes and can occur more than once in a 24-hour period.

Causes and diseases

Potential causes and diseases associated with seizures

Seizure activity can have a variety of causes:

  • Structural causes or abnormal structures in the brain caused by:
    • Brain injury or trauma
    • Strokes
    • Brain tumor
    • Genetic or congenital (a change that a person is born with)
  • High fevers
  • Lack of oxygen during birth
  • An underlying genetic factor

Conditions or rare genetic diseases associated with seizures:

  • Conditions such as Autism, Epilepsy, Attention Deficit Hyperactive Disorders (ADHD)
  • There are infections that are associated with Epilepsy. For example, Neurocysticercosis, Cerebral Malaria, TORCH infections (Toxoplasmosis, other agent, Rubella/German measles, Cytomegalovirus, and Herpes Simplex), Bacterial Meningitis, Viral Encephalitis, Tuberculosis, and Human Immunodeficiency Virus (HIV)
  • Metabolic causes that due to underactivity or blockage of enzymes that help with breaking down foods. Examples are GLUT 1 (Glucose Transport) Deficiency Syndrome (SLC2A1) or Vitamin dependent metabolic disorders such as Pyridoxine, P5P or Folinic acid. There are also creatine transporter disorders, mitochondrial disorders, and storage disorders
  • Rare genetic diseases such as Angelman Syndrome, CDKL5 Deficiency Disorder, Dravet Syndrome, Lennox-Gastaut Syndrome, Rett Syndrome, Ohtahara syndrome, PCDH19 Epiliepsy, Rett Syndrome, SCN2A related disorders

Tired of not getting answers? AmbitCare is here to help you.

One in three people with developmental delays and seizures not controlled by medicine have underlying genetic causes. AmbitCare provides free genetic services and 1:1 support. Take our assessment at the top of the page to find out if your child qualifies.