Benign familial neonatal convulsion (BFNC), also known as benign familial neonatal seizures or hereditary benign infantile seizures, is a rare genetic disorder characterized by recurring seizures in newborns and infants.
The term "benign" implies that the seizures associated with this condition have no long-term adverse effects on the child's overall development. However, the seizures themselves can be distressing for both the child and their caregivers.
Patients affected by BFNC experience seizures within the first few days or weeks of life, typically during feeding or upon awakening. These seizures are usually brief and self-limited, lasting for a few seconds to several minutes. They often involve sudden body stiffening and jerking movements, but loss of consciousness is typically not observed.
BFNC is inherited in an autosomal dominant pattern, meaning that a single copy of the defective gene from one parent is enough to cause the condition. The specific genes associated with BFNC have been identified, including the KCNQ2 and KCNQ3 genes, which are responsible for encoding proteins involved in the functioning of potassium channels in the brain. Mutations in these genes disrupt the normal electrical activity of the brain, leading to the occurrence of seizures.
While treatment is not typically required for BFNC, antiepileptic medications can be administered to control the seizures if they persist and cause distress to the child. With time, the frequency and severity of seizures tend to decrease, and most affected children outgrow this condition by the age of one to two years. Close monitoring and genetic counseling for affected families are essential.
