Benign familial neonatal seizures

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Benign Familial Neonatal Seizures (BFNS) is a rare genetic disorder characterized by recurrent seizures or convulsions occurring in the neonatal period. The seizures usually start within the first few days of life and typically resolve by 12 months of age.

Pronunciation

The term is pronounced as /bɪˈnaɪn fəˈmɪliəl niːəˈneɪtəl ˈsiːʒərz/.

Etymology

The term "Benign Familial Neonatal Seizures" is derived from the following roots:

  • Benign - from Latin benignus meaning kind, good.
  • Familial - from Latin familia meaning family, indicating the genetic nature of the disorder.
  • Neonatal - from Latin neo meaning new and natalis meaning birth, referring to the period immediately after birth.
  • Seizures - from Old French saisir meaning to grasp or take hold of, referring to the sudden, uncontrolled electrical disturbance in the brain.

Related Terms

  • Seizure - A sudden, uncontrolled electrical disturbance in the brain.
  • Neonate - A newborn child, or one in the first 28 days of life.
  • Genetic disorder - A disease caused by abnormalities in an individual's genetic material.
  • Convulsion - A sudden, violent, irregular movement of the body, caused by involuntary contraction of muscles and associated especially with brain disorders.

Symptoms

The primary symptom of BFNS is recurrent seizures, which usually begin within the first few days of life. These seizures are often characterized by sudden, jerky movements of the limbs, and may be accompanied by irregular breathing, bluish skin, and brief periods of unresponsiveness.

Causes

BFNS is caused by mutations in the potassium channel genes, specifically the KCNQ2 and KCNQ3 genes. These mutations are inherited in an autosomal dominant manner, meaning that an individual only needs to inherit one copy of the mutated gene from either parent to be affected.

Diagnosis

Diagnosis of BFNS is based on the clinical presentation of seizures in the neonatal period, a family history of neonatal seizures, and genetic testing confirming a mutation in the KCNQ2 or KCNQ3 gene.

Treatment

Treatment for BFNS typically involves the use of antiepileptic drugs to control seizures. In most cases, treatment can be discontinued after the first year of life, as the seizures usually resolve on their own by this time.

Prognosis

The prognosis for individuals with BFNS is generally good. Most affected individuals experience normal development and have no neurological problems between seizures. The seizures themselves typically resolve by 12 months of age.

External links

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