Early Infantile Epileptic Encephalopathy (EIEE) represents a group of severe brain disorders that manifest in the first few months of life, often characterized by frequent seizures and significant developmental delays. One specific form of this condition, known as Early Infantile Epileptic Encephalopathy Type 24 (EIEE24), is linked to mutations in the HCN1 gene. Understanding the symptoms and genetic underpinnings of EIEE24 is crucial for early diagnosis and management. DNA Labs UAE offers a comprehensive genetic test for EIEE24, aiming to provide essential information for affected families.
Symptoms of EIEE24
The symptoms of EIEE24 typically manifest in the early months of an infant’s life. They are characterized by:
- Frequent Seizures: Infants with EIEE24 experience various types of seizures, which can be difficult to control with medication.
- Developmental Delays: There is often a significant delay in reaching developmental milestones such as sitting, standing, or speaking.
- Muscle Tone Abnormalities: Affected infants may have either increased (hypertonia) or decreased (hypotonia) muscle tone.
- Impaired Cognitive Function: Cognitive development is typically affected, leading to various degrees of intellectual disability.
- Behavioral Issues: Some children may exhibit behavioral issues as they grow, including autism spectrum disorder characteristics.
It is important to note that the severity and combination of symptoms can vary significantly from one individual to another.
HCN1 Gene and EIEE24
The HCN1 gene plays a critical role in the normal functioning of brain cells. Mutations in this gene disrupt the flow of ions in and out of neurons, leading to the neurological symptoms observed in EIEE24. Genetic testing for mutations in the HCN1 gene can confirm a diagnosis of EIEE24, providing crucial information for the management of the condition.
Genetic Test for EIEE24 at DNA Labs UAE
DNA Labs UAE offers a specialized genetic test for EIEE24, aimed at detecting mutations in the HCN1 gene. The test is designed for:
- Families with a history of EIEE24 or unexplained infantile seizures.
- Infants presenting with symptoms consistent with EIEE24.
- Healthcare professionals looking for a definitive diagnosis to guide treatment and management decisions.
The cost of the genetic test is 4400 AED. This comprehensive test provides families and healthcare providers with critical information for the management of EIEE24, including potential treatment strategies and prognosis.
Conclusion
Early Infantile Epileptic Encephalopathy Type 24 is a challenging condition, both for the affected infants and their families. Understanding the symptoms and genetic basis of the disease is crucial for early diagnosis and effective management. DNA Labs UAE is committed to providing advanced genetic testing services, including the HCN1 gene test for EIEE24, to support affected families and healthcare providers. For more information about the test and to schedule a consultation, please visit DNA Labs UAE.
