About Benign familial neonatal-infantile seizures
What is Benign familial neonatal-infantile seizures?
Benign familial neonatal-infantile seizures (BFNIS) is a rare genetic disorder characterized by recurrent seizures that typically begin in the first few days of life and last until the age of four months. The seizures are usually brief and may involve jerking of the arms and legs, staring, and loss of consciousness. BFNIS is caused by mutations in the SCN2A gene, which is responsible for the production of a protein involved in the transmission of electrical signals in the brain. Treatment typically involves anticonvulsant medications.
What are the symptoms of Benign familial neonatal-infantile seizures?
The symptoms of Benign familial neonatal-infantile Seizures (BFNIS) include:
-Frequent, brief Seizures that usually begin in the first few days of life
-Seizures may last from a few seconds to a few minutes
-Seizures may involve jerking or twItching of the arms and legs
-The infant may appear to be staring or unresponsive during the seizure
-The infant may have a brief period of confusion or Drowsiness after the seizure
-The infant may have a brief period of Increased muscle tone after the seizure
-The infant may have a brief period of apnea (stopping breathing) after the seizure
-The infant may have a brief period of cyanosis (blue skin color) after the seizure
-The infant may have a brief period of eye rolling after the seizure
What are the causes of Benign familial neonatal-infantile seizures?
Benign familial neonatal-infantile seizures (BFNIS) is a rare genetic disorder caused by mutations in the SCN2A gene. This gene is responsible for producing a protein called sodium channel 2A, which is important for normal brain development and function. Mutations in this gene can lead to abnormal electrical activity in the brain, resulting in seizures. Other causes of BFNIS include genetic mutations in other genes, such as the GABRG2 gene, and environmental factors, such as exposure to certain toxins or infections.
What are the treatments for Benign familial neonatal-infantile seizures?
The primary treatment for Benign familial neonatal-infantile seizures is anticonvulsant medications. Commonly used anticonvulsants include phenobarbital, phenytoin, and valproic acid. Other medications, such as levetiracetam, topiramate, and zonisamide, may also be used. In some cases, a ketogenic diet may be recommended. This is a high-fat, low-carbohydrate diet that has been shown to reduce seizure activity in some people. In addition, lifestyle modifications, such as avoiding sleep deprivation and stress, may help reduce the frequency and severity of seizures.
What are the risk factors for Benign familial neonatal-infantile seizures?
1. Family history of seizures
2. Low birth weight
3. Premature birth
4. Maternal infection during pregnancy
5. Low Apgar scores
6. Hypoglycemia
7. Hypocalcemia
8. Hypomagnesemia
9. Hyponatremia
10. Hyperbilirubinemia
11. Intracranial hemorrhage
12. Intraventricular hemorrhage
13. Perinatal asphyxia
14. Congenital malformations
15. Inborn errors of metabolism
16. Neonatal encephalopathy
17. Maternal drug use during pregnancy
18. Exposure to toxins or environmental pollutants
Is there a cure/medications for Benign familial neonatal-infantile seizures?
Yes, there are medications available to treat Benign familial neonatal-infantile seizures. These include anticonvulsants such as phenobarbital, phenytoin, and valproic acid. In some cases, the seizures may resolve on their own without treatment. However, it is important to consult with a doctor to determine the best course of treatment for your individual situation.