Understanding the symptoms of Early Infantile Epileptic Encephalopathy Type 15 (EIEE15) is crucial for early diagnosis and management. This rare but severe condition is caused by mutations in the ST3GAL3 gene, which plays a significant role in brain development. DNA Labs UAE offers a comprehensive genetic test for identifying mutations in the ST3GAL3 gene, aiding in the early detection of EIEE15. The cost of this vital test is 4400 AED, a crucial investment in the health and well-being of affected infants.
EIEE15 is characterized by a range of neurological symptoms that manifest early in infancy. Understanding these symptoms is the first step toward seeking appropriate genetic testing and care for affected individuals.
Symptoms of ST3GAL3 Gene Mutation
The primary indicator of EIEE15 is the onset of seizures within the first few months of life. These are not typical seizures; they are often resistant to standard epilepsy treatments, making early and accurate diagnosis all the more critical. Other symptoms associated with this condition include:
- Developmental delay – Affected infants may show significant delays in reaching developmental milestones such as sitting, crawling, or walking.
- Intellectual disability – Many children with EIEE15 will experience varying degrees of intellectual disability.
- Muscle spasticity – Increased muscle tone, or spasticity, is a common symptom, which can lead to difficulties in movement and coordination.
- Impaired speech and language development – Due to the early onset of seizures and other neurological impairments, children with EIEE15 often experience delays in speech and language development.
- Feeding difficulties – Infants with this condition may have trouble feeding due to poor muscle tone and coordination.
- Microcephaly – Some children may have a smaller head size, which can indicate underlying brain development issues.
- Visual impairments – Issues with vision, including cortical visual impairment, are also reported in some cases of EIEE15.
Given the complexity and severity of these symptoms, it’s essential for parents and caregivers to be vigilant and seek medical advice if they suspect their child may be affected. Early diagnosis through genetic testing can provide a clearer understanding of the condition and guide treatment and management decisions.
Genetic Testing for EIEE15
DNA Labs UAE offers a specialized genetic test for the ST3GAL3 gene, aimed at identifying mutations that cause EIEE15. The test is a critical tool for confirming the diagnosis of EIEE15, enabling families and healthcare providers to make informed decisions about care and treatment. Priced at 4400 AED, the test is a vital step towards understanding and managing this challenging condition.
For more information on the ST3GAL3 gene early infantile epileptic encephalopathy type 15 genetic test, and to schedule a test, please visit https://dnalabsuae.com/tests/st3gal3-gene-early-infantile-epileptic-encephalopathy-type-15-genetic-test/.
In conclusion, early detection and diagnosis of EIEE15 through genetic testing are essential for managing the condition and improving the quality of life for affected individuals. DNA Labs UAE is committed to providing accurate and timely genetic testing services to aid in the diagnosis of rare genetic disorders like EIEE15. By understanding the symptoms and seeking early genetic testing, parents and caregivers can take an active role in the care and treatment of their loved ones.
