Short Description

NGS genetic DNA test detecets for variant and mutation detection in CHRNA4 gene for Epilepsy, nocturnal frontal lobe type 1

PreTest Information

Clinical History of Patient who is going for CHRNA4 Gene Epilepsy, nocturnal frontal lobe type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CHRNA4 Gene Epilepsy, nocturnal frontal lobe type 1

Detail Description

CHRNA4 Gene Epilepsy - Nocturnal Frontal Lobe Type 1 NGS Genetic DNA Test Cost INR 20000: Symptoms and Diagnosis

Epilepsy is a neurological disorder that affects millions of people worldwide. It is characterized by recurrent seizures, which are caused by abnormal electrical activity in the brain. Epilepsy can be caused by a variety of factors, including genetics, brain injury, infection, and more.

One specific genetic factor that has been linked to epilepsy is the CHRNA4 gene. This gene is responsible for producing a protein called the alpha-4 subunit of the nicotinic acetylcholine receptor, which is involved in the transmission of nerve signals in the brain. Mutations in the CHRNA4 gene have been found to cause a specific type of epilepsy known as nocturnal frontal lobe epilepsy type 1 (NFLE1).

Symptoms of CHRNA4 Gene Epilepsy

The symptoms of CHRNA4 gene epilepsy are similar to those of other types of epilepsy. They include:

• Recurrent seizures
• Uncontrolled movements or convulsions
• Loss of consciousness
• Confusion or disorientation after a seizure
• Memory problems
• Behavioral changes

However, one characteristic feature of NFLE1 is that the seizures typically occur during sleep, specifically during the first few hours of the night. These seizures can be difficult to diagnose, as they may not be visible to the person experiencing them or to others.

Diagnosis of CHRNA4 Gene Epilepsy

Diagnosing CHRNA4 gene epilepsy requires a combination of clinical evaluation and genetic testing. A doctor will typically perform a neurological exam and ask about the patient's medical history and symptoms. They may also order an electroencephalogram (EEG), which measures the electrical activity in the brain.

In addition, genetic testing can be used to identify mutations in the CHRNA4 gene. Next-generation sequencing (NGS) is a type of genetic testing that can rapidly sequence large amounts of DNA. This technology can be used to identify genetic mutations associated with NFLE1 and other types of epilepsy.

NGS Genetic DNA Test Cost

The cost of an NGS genetic DNA test for CHRNA4 gene epilepsy is typically around INR 20000. However, the actual cost may vary depending on the specific testing facility and any additional tests that may be required.

Conclusion

CHRNA4 gene epilepsy is a specific type of epilepsy that is caused by mutations in the CHRNA4 gene. It is characterized by seizures that occur during sleep, making it difficult to diagnose. However, with a combination of clinical evaluation and genetic testing, it is possible to identify mutations in the CHRNA4 gene and diagnose NFLE1. The cost of NGS genetic DNA testing for CHRNA4 gene epilepsy is typically around INR 20000.

If you suspect that you or a loved one may have CHRNA4 gene epilepsy, it is important to seek medical attention and discuss the possibility of genetic testing with a healthcare professional.

Epilepsy, Nocturnal Frontal Lobe Type 1 (ENFL1), also known as autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), is a rare genetic form of epilepsy characterized by seizures that predominantly occur during sleep. Mutations in the CHRNA4 gene have been associated with ENFL1.