Symptoms and Testing information for SCN1B Gene Generalized Epilepsy with Febrile Seizures Plus Type 1 Genetic Test

Symptoms and Testing information for SCN1B Gene Generalized Epilepsy with Febrile Seizures Plus Type 1 Genetic Test

At DNA Labs UAE, we are committed to providing comprehensive genetic testing services to help diagnose and manage a variety of conditions, including epilepsy. One specific focus of our work is on the diagnosis of Generalized Epilepsy with Febrile Seizures Plus Type 1 (GEFS+ Type 1), which is associated with mutations in the SCN1B gene. Understanding the symptoms and undergoing genetic testing for this condition is crucial for effective management and treatment. The cost of the SCN1B Gene Generalized Epilepsy with Febrile Seizures Plus Type 1 Genetic Test is 4400 AED.

Generalized Epilepsy with Febrile Seizures Plus (GEFS+) is a spectrum of epilepsy syndromes that can range from mild to severe. Type 1 is specifically linked to mutations in the SCN1B gene. This gene plays a vital role in the functioning of sodium channels in the brain, which are essential for the transmission of electrical signals. Mutations in SCN1B can disrupt this process, leading to the development of epilepsy.

Symptoms of SCN1B Gene Generalized Epilepsy with Febrile Seizures Plus Type 1

The symptoms of GEFS+ Type 1 can vary significantly among individuals, but they typically include a combination of febrile seizures and a variety of afebrile seizures. Febrile seizures are convulsions brought on by fever and are common in young children. However, individuals with GEFS+ Type 1 may also experience afebrile seizures without the presence of fever. The range of seizure types can include:

  • Myoclonic seizures, which are characterized by sudden, brief jerks of a muscle or group of muscles.
  • Atonic seizures, also known as drop attacks, where there is a sudden loss of muscle tone leading to a collapse.
  • Absence seizures, which involve brief lapses in awareness or consciousness.
  • Tonic-clonic seizures, which are what most people think of when they hear the word “seizure.” These involve a loss of consciousness, muscle rigidity, and convulsions.

It’s important to note that the severity and frequency of these seizures can vary widely. Some individuals may experience only a few mild seizures in their lifetime, while others may have frequent and severe seizures that are difficult to control with medication.

Importance of Genetic Testing for SCN1B Gene Generalized Epilepsy

Genetic testing for mutations in the SCN1B gene is crucial for the diagnosis and management of GEFS+ Type 1. A definitive genetic diagnosis can help guide treatment decisions, predict prognosis, and provide information about the risk of epilepsy in family members. The test involves a simple blood draw or cheek swab and is analyzed in our state-of-the-art laboratory facilities.

At DNA Labs UAE, we understand the impact that a diagnosis of epilepsy can have on individuals and their families. Our team is dedicated to providing support and guidance throughout the testing process. For more information about the SCN1B Gene Generalized Epilepsy with Febrile Seizures Plus Type 1 Genetic Test and to schedule an appointment, please visit our website at https://dnalabsuae.com.

The cost of the test is 4400 AED, which includes a comprehensive analysis and a detailed report of the findings. Our team of genetic counselors is also available to discuss the results and what they mean for you and your family.

Understanding the genetic basis of epilepsy can empower individuals and families with the knowledge needed to manage the condition effectively. At DNA Labs UAE, we are committed to providing the highest quality genetic testing services to help improve the lives of those affected by epilepsy and other genetic disorders.

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