Understanding SCN2A Gene Convulsions
SCN2A gene convulsions, also known as benign familial infantile, are a rare form of epilepsy that affects infants and young children. This genetic disorder is caused by a mutation in the SCN2A gene, which is responsible for encoding a protein called sodium channel Nav1.2. This protein is crucial for the proper functioning of nerve cells in the brain, and any mutations in the SCN2A gene can disrupt this function, leading to seizures and other neurological symptoms.
Symptoms of SCN2A Gene Convulsions
The symptoms of SCN2A gene convulsions can vary widely, but they typically involve recurrent seizures that start in the first few months of life. These seizures can take many forms, including:
- Tonic-clonic seizures
- Myoclonic seizures
- Atonic seizures
- Focal seizures
In addition to seizures, children with SCN2A gene convulsions may also experience other neurological symptoms, such as:
- Developmental delays
- Intellectual disability
- Speech and language problems
- Muscle weakness
- Abnormal movements
Diagnosis of SCN2A Gene Convulsions
Diagnosing SCN2A gene convulsions can be challenging, as the symptoms can be similar to other forms of epilepsy. However, genetic testing can help identify the specific mutation in the SCN2A gene that is causing the seizures. The most effective test for diagnosing SCN2A gene convulsions is Next-Generation Sequencing (NGS), a high-throughput DNA sequencing technology that can quickly and accurately identify genetic mutations. NGS testing for SCN2A gene convulsions typically costs around INR 20,000.
Treatment and Management of SCN2A Gene Convulsions
There is currently no cure for SCN2A gene convulsions, but there are several treatment options that can help manage the symptoms. Anti-epileptic drugs (AEDs) are often used to control seizures, but they may not be effective for all patients. Other treatments may include physical therapy, speech therapy, and occupational therapy to address developmental delays and other neurological symptoms.
Conclusion
SCN2A gene convulsions are a rare form of epilepsy that can cause seizures and other neurological symptoms in infants and young children. Genetic testing, specifically NGS, can help identify the specific mutation in the SCN2A gene that is causing the seizures and aid in diagnosis. While there is no cure for SCN2A gene convulsions, there are several treatment options that can help manage the symptoms and improve the quality of life for patients and their families.
Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for SCN2A Gene Convulsions, benign familial infantile, 3 NGS Genetic Test
| Test Name | SCN2A Gene Convulsions, benign familial infantile, 3 NGS Genetic Test |
|---|---|
| Sample type | Blood or Extracted DNA or One drop Blood on FTA Card o |
| Test type | Neurologist |
| Pre-test Information | Clinical History of Patient who is going for SCN2A Gene Convulsions, benign familial infantile, 3 NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with SCN2A Gene Convulsions, benign familial infantile, 3 |
| Disease | Neurological Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for SCN2A Gene Convulsions, benign familial infantile, 3 NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with SCN2A Gene Convulsions, benign familial infantile, 3 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for SCN2A Gene Convulsions, benign familial infantile, 3 NGS Genetic Test and the test costs a special discounted price of 20000 INR across India. The cities where this service is available include Mumbai, Delhi, Bangalore, Hyderabad, Ahmedabad, Chennai, Kolkata, Surat, Pune, Jaipur, Lucknow, Kanpur, Nagpur, Indore, Thane, Bhopal, Visakhapatnam, Pimpri-Chinchwad, Patna, Vadodara, Ghaziabad, Ludhiana, Agra, Nashik, Faridabad, Meerut, Rajkot, Kalyan-Dombivali, Vasai-Virar, Varanasi, Srinagar, Aurangabad, Dhanbad, Amritsar, Navi Mumbai, Prayagraj, Howrah, Ranchi, Jabalpur, Gwalior, Coimbatore, Vijayawada, Jodhpur, Madurai, Raipur, Kota, Guwahati, Chandigarh, Thiruvananthapuram, Solapur, Hubballi-Dharwad, Tiruchirappalli, Tiruppur, Moradabad, Mysore, Bareily, Gurgaon, Aligarh, Jalandhar, Bhubaneswar, Salem, Mira-Bhayandar, Warangal , Guntur , Bhiwandi, Saharanpur, Gorakhpur, Bikaner, Amravati, Noida, Jamshedpur, Bhilai, Cuttack, Firozabad, Kochi, Nellore , Bhavnagar, Dehradun, Durgapur, Asansol, Rourkela, Nanded, Kolhapur, Ajmer, Akola, Gulbarga, Jamnagar, Ujjain, Loni, Siliguri, Jhansi, Ulhasnagar, Jammu, Sangli-Miraj & Kupwad, Mangalore, Erode10, Belgaum, Ambattur, Tirunelveli, Malegaon, Gaya, Jalgaon, Udaipur, Maheshtala, Davanagere, Kozhikode, Kurnool, Rajpur Sonarpur, Rajahmundry , Bokaro, South Dumdum, Bellary, Patiala, Gopalpur, Agartala, Bhagalpur, Muzaffarnagar, Bhatpara, Panihati, Latur, Dhule, Tirupati , Rohtak, Korba, Bhilwara, Berhampur, Muzaffarpur, Ahmednagar, Mathura, Kollam, Avadi, Kadapa, Kamarhati, Sambalpur, Bilaspur, Shahjahanpur, Satara, Bijapur, Rampur, Shivamogga, Chandrapur, Junagadh, Thrissur, Alwar, Bardhaman, Kulti, Kakinada, Nizamabad, Parbhani, Tumkur, Khammam, Ozhukarai, Bihar Sharif, Panipat, Darbhanga, Bally, Aizawl, Dewas, Ichalkaranji, Karnal, Bathinda, Jalna, Eluru, Kirari Suleman Nagar, Barasat, Purnia, Satna, Mau, Sonipat, Farrukhabad, Sagar, Rourkela, Durg, Imphal, Ratlam, Hapur, Arrah, Karimnagar, Anantapur, Etawah, Ambernath, North Dumdum, Bharatpur, Begusarai, New Delhi, Gandhidham, Baranagar, Tiruvottiyur, Puducherry, Sikar, Thoothukudi, Rewa, Mirzapur, Raichur, Pali, Ramagundam , Haridwar, Vijayanagaram, Katihar, Nagarcoil, Sri Ganganagar, Karawal Nagar, Mango, Thanjavur, Bulandshahr, Uluberia, Murwara, Sambhal, Singrauli, Nadiad, Secunderabad, Naihati, Yamunanagar, Bidhan Nagar, Pallavaram, Bidar, Munger, Panchkula, Burhanpur, Raurkela Industrial Township, Kharagpur, Dindigul, Gandhinagar, Hospet, Nangloi Jat, Malda, Ongole, Deoghar, Chapra, Haldia, Khandwa, Nandyal, Chittoor , Morena, Amroha, Anand, Bhind, Bhalswa Jahangir Pur, Madhyamgram, Bhiwani, Navi Mumbai Panvel Raigad, Baharampur, Ambala, Morvi, Fatehpur, Rae Bareli, Khora, Bhusawal, Orai, Bahraich, Vellore, Mahesana, Sambalpur, Raiganj, Sirsa, Danapur, Serampore, Sultan Pur Majra, Guna, Jaunpur, Panvel, Shivpuri, Surendranagar Dudhrej, Unnao, Hugli and Chinsurah, Alappuzha, Kottayam, Machilipatnam, Shimla, Adoni, Tenali, Proddatur, Saharsa, Hindupur, Sasaram, Hajipur, Bhimavaram, Dehri, Madanapalle, Siwan, Bettiah, Guntakal, Srikakulam, Motihari, Dharmavaram, Gudivada, Narasaraopet, Bagaha, Miryalaguda, Tadipatri, Kishanganj, Karaikudi, Suryapet, Jamalpur, Kavali, Tadepalligudem, Amaravati, Buxar, Jehanabad, Aurangabad.
