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Learn About Causes and Symptoms

You may not have all the answers. Learn more about what causes seizures and developmental delay.

There are many potential causes of seizures and developmental delay.

You or your loved ones may have a diagnosis of seizures and/or global developmental delay, but you may not know what the underlying cause is. Some causes of seizures and developmental delay include genetic mutations that may be linked to a rare disease, structural brain abnormalities, trauma, pregnancy or birth complications, or infection.

About 30% of people with developmental encephalopathies who do not have structural brain abnormalities or metabolic findings on tests have an underlying genetic change that is causing their symptoms. These conditions are a group of severe epilepsies causing seizures that are often not controlled with medication, developmental delay, and may lead to a loss of developmental skills.

Genetic mutations are not always passed on from parent to child.

Genetic mutations are not always hereditary; meaning no history of genetic conditions in your family does not rule out the possibility of a genetic mutation causing the seizures and developmental delay.

There are many rare genetic conditions that occur due to what is called a de novo genetic mutation.

  • A de novo genetic mutation is a genetic mutation that occurs randomly; it is not passed down from parent to child.
  • As a result, you may not have a family history of a genetic condition, but a genetic mutation could still cause symptoms.

Why is it important to understand what is causing my or my loved one's seizures and developmental delay?

  • Learn about additional treatment options you or your loved ones may be eligible for.
  • Help your physician avoid prescribing medications that could worsen symptoms. 
  • Find centers of excellence that can provide specialized care from physicians experienced in treating the same symptom(s) / disease(s).
  • Connect with other families caring for individuals living with the same condition.
  • Identify clinical trials where you or your loved ones may have the opportunity to receive potentially life-altering medication at little or no cost. 
 

What is a genetic mutation?

A genetic mutation is a change in an individual’s DNA that often has no impact at all, but can cause illness or genetic disorders

50% of children with epilepsy have some form of learning difficulty, while 15% of the general population have some form of learning difficulty.1

15% of patients on three or more anti-seizure medications have an underlying genetic mutation that is causing their symptoms.

1“Childhood Epilepsy: Learning.” Massachusetts General Hospital

What is a genetic mutation?

A genetic mutation is a change in an individual’s DNA that often has no impact at all, but can cause illness or genetic disorders

50% of children with epilepsy have some form of learning difficulty, while 15% of the general population have some form of learning difficulty.1

1“Childhood Epilepsy: Learning.” Massachusetts General Hospital

15% of patients on three or more anti-seizure medications have an underlying genetic mutation that is causing their symptoms.

SIGNS OF SEIZURES IN INFANCY AND CHILDHOOD

SEIZURES AND ASSOCIATED CLINICAL CONDITIONS

How do I know if my or my loved one’s symptoms indicate genetic seizure disorders?

Find out if you or your loved ones qualify for our free genetic services below by joining our community.

AmbitCare can guide you to see if genetic testing is right for you or your loved ones.

Genetic testing can help you uncover if a genetic mutation is causing symptoms, such as seizures and developmental delays. Register below to see if you qualify for our free genetic services. Even if you don’t, join our community to receive other free benefits such as customized 1:1 support.

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Have additional questions? Contact an AmbitCare Ambassador by phone at 1-877-584-8995 or by email at info@ambitinc.com today.

Our hours of operation are Monday-Friday, 9-5pm ET. An AmbitCare Ambassador will typically respond within 1-2 business days.

* Please note that while AmbitCare Ambassadors can help you better understand what resources are available for families with loved ones suffering from seizures and developmental delays, they are not licensed medical providers and thus can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments.

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Disclaimer

Please note that AmbitCare provides this information for the benefit of the rare disease community. AmbitCare is not a medical provider nor a health care facility. AmbitCare can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments. Individuals must rely on the personal and individualized medical advice of their qualified health care professionals before seeking any information related to their particular diagnosis, cure, or treatment of a condition or disorder.

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