Short Description

NGS genetic DNA test detecets for variant and mutation detection in CHRNA2 gene for Epilepsy, nocturnal frontal lobe type 4

PreTest Information

Clinical History of Patient who is going for CHRNA2 Gene Epilepsy, nocturnal frontal lobe type 4 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CHRNA2 Gene Epilepsy, nocturnal frontal lobe type 4

Detail Description

DNA Labs India: Understanding CHRNA2 Gene Epilepsy, Nocturnal Frontal Lobe Type 4

Epilepsy is a neurological disorder that affects millions of people around the world. It is characterized by recurrent seizures that can vary in severity and frequency. One of the types of epilepsy is Nocturnal Frontal Lobe Epilepsy (NFLE), which is a rare form of epilepsy that affects the frontal lobe of the brain during sleep.

NFLE is caused by genetic mutations in specific genes, including the CHRNA2 gene. The CHRNA2 gene provides instructions for making a protein called alpha-2 subunit of nicotinic acetylcholine receptor, which is involved in the communication between nerve cells in the brain. Mutations in this gene can disrupt the normal functioning of the brain and lead to seizures.

Symptoms of NFLE

The symptoms of NFLE can vary depending on the severity of the seizures. Some of the common symptoms include:

• Repeated episodes of seizures during sleep
• Abnormal movements during sleep such as kicking, thrashing, and screaming
• Difficulty in waking up during seizures
• Feeling tired and irritable during the day due to disrupted sleep

Diagnosis of NFLE

Diagnosis of NFLE can be challenging as the seizures occur during sleep, and patients may not be aware of the symptoms. Doctors may perform a variety of tests to diagnose NFLE, including:

• Electroencephalogram (EEG) to measure the electrical activity of the brain
• Magnetic resonance imaging (MRI) to detect any structural abnormalities in the brain
• Sleep study to monitor the patient's brain waves, breathing, and movements during sleep

NGS Genetic DNA Test for CHRNA2 Gene Epilepsy

NGS Genetic DNA Test is a next-generation sequencing test that can detect mutations in the CHRNA2 gene. This test is a highly accurate and sensitive method for diagnosing NFLE caused by CHRNA2 gene mutations.

The cost of the NGS Genetic DNA Test for CHRNA2 Gene Epilepsy at DNA Labs India is INR 20,000. This test can help doctors provide accurate diagnosis and personalized treatment for patients with NFLE.

Conclusion

NFLE is a rare form of epilepsy that can be caused by mutations in the CHRNA2 gene. The symptoms of NFLE can vary in severity, and diagnosis can be challenging. NGS Genetic DNA Test is a highly accurate and sensitive method for detecting CHRNA2 gene mutations and diagnosing NFLE. The cost of the test at DNA Labs India is INR 20,000, which can provide patients with accurate diagnosis and personalized treatment.

For more information on NGS Genetic DNA Test for CHRNA2 Gene Epilepsy, please contact DNA Labs India.

Epilepsy, Nocturnal Frontal Lobe Type 4 (ENFL4), 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 CHRNA2 gene have been associated with ENFL4.