Symptoms and Testing information for SIK1 Gene Early infantile epileptic encephalopathy type 30 Genetic Test

Symptoms and Testing information for SIK1 Gene Early infantile epileptic encephalopathy type 30 Genetic Test

Early Infantile Epileptic Encephalopathy (EIEE), also known as Ohtahara Syndrome, is a severe neurological disorder that appears in the early stages of infancy, often within the first few months of life. Among the genes associated with this condition, the SIK1 gene has been identified as a significant contributor to the development of EIEE type 30. Understanding the symptoms associated with mutations in the SIK1 gene is crucial for early diagnosis and management of the condition. DNA Labs UAE offers a comprehensive genetic test for parents who are concerned about the risk of Early Infantile Epileptic Encephalopathy type 30 in their children, priced at 4400 AED.

Symptoms of SIK1 Gene Early Infantile Epileptic Encephalopathy Type 30

The SIK1 gene mutation leads to a range of neurological symptoms that can severely impact the quality of life of affected infants. These symptoms are often noticeable in the first few months after birth and include:

  • Severe Seizures: One of the hallmark symptoms of EIEE type 30 is the onset of severe seizures that are difficult to control with standard epilepsy medications. These seizures are often of various types, including tonic (stiffening of the body, upward deviation of the eyes, dilation of the pupils), atonic (sudden loss of muscle tone), and myoclonic (sudden muscle jerks).
  • Developmental Delays: Infants with this condition often experience significant developmental delays. These can include delays in reaching milestones such as sitting, crawling, and walking. Cognitive and speech delays are also common.
  • Spasticity: Muscle stiffness or spasticity is another symptom associated with the SIK1 gene mutation. This can limit the range of motion and contribute to developmental delays.
  • Microcephaly: Some children with EIEE type 30 may develop microcephaly, a condition where the head circumference is smaller than normal for an infant’s age and sex, indicating abnormal brain development.
  • Hypotonia: Low muscle tone or hypotonia may also be observed in some cases, making it difficult for the child to maintain posture.

Early diagnosis through genetic testing is crucial for managing the symptoms of EIEE type 30. The genetic test offered by DNA Labs UAE for the SIK1 gene can help identify the mutation responsible for the condition, allowing for early intervention and tailored treatment plans.

Understanding the Genetic Test

The SIK1 Gene Early Infantile Epileptic Encephalopathy Type 30 Genetic Test provided by DNA Labs UAE is a comprehensive analysis designed to detect mutations in the SIK1 gene. This test is particularly recommended for families with a history of EIEE or those who have an infant showing symptoms associated with the disorder. The process involves collecting a DNA sample, typically through a non-invasive buccal swab, and analyzing the genetic material for specific mutations linked to the condition.

The cost of the test is 4400 AED, which includes the full analysis and a detailed report. The report not only confirms the presence of a SIK1 gene mutation but also provides valuable information for healthcare providers to develop an effective treatment and management plan tailored to the child’s specific needs.

Early detection and intervention are critical in managing Early Infantile Epileptic Encephalopathy type 30, as they can significantly improve the quality of life for affected children and their families. By providing access to advanced genetic testing, DNA Labs UAE plays a crucial role in the fight against this debilitating condition.

For more information or to schedule a test, please visit DNA Labs UAE.

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