KCNQ2 Encephalopathy synonyms

KCNQ2 Encephalopathy Synonyms:

KCNQ2 encephalopathy is a rare genetic disorder that affects the brain and nervous system. It is also known by several other names, including benign familial neonatal seizures type 2 (BFNS2), early infantile epileptic encephalopathy 7 (EIEE7), and KCNQ2-related epilepsy.

Benign Familial Neonatal Seizures Type 2 (BFNS2):

This term refers to the specific type of seizures that occur in individuals with KCNQ2 encephalopathy. These seizures typically begin in the neonatal period and are characterized by their benign nature, meaning they do not cause long-term damage or developmental delays.

Early Infantile Epileptic Encephalopathy 7 (EIEE7):

EIEE7 is another name for KCNQ2 encephalopathy, emphasizing the early onset of seizures and the associated encephalopathy, which refers to the brain dysfunction and developmental delays that can occur in affected individuals.

KCNQ2-Related Epilepsy:

This term highlights the genetic basis of the disorder, as it is caused by mutations in the KCNQ2 gene. KCNQ2-related epilepsy encompasses the range of symptoms and seizure types associated with the condition.

While these synonyms are used interchangeably, it is important to note that they all refer to the same underlying condition: KCNQ2 encephalopathy. The disorder is characterized by seizures that typically begin in the neonatal period, developmental delays, and various neurological symptoms.