Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE)

   Tweet   

---

ADNFLE is rare idiopathic epilepsy which involves frontal lobe and was first reported in 1994. Aggressive seizures occur in cluster during sleep and typically first visible in infancy. Daytime seizure also occurs but they are very rare. Complex motor movements, such as hand tightens, arm raising/lowering, knee bending and vocalizations occurred during seizure. Many times it is misunderstand as nightmares, night terrors or parasomnia. It lasts for 5 seconds to 5 minutes and ranges from infancy to adulthood. It is lifelong syndrome is for but after middle age it becomes rare. Most of patients experience aura and there is no loss of Consciousness. Patients show normal intellectual as that of others.

Genetic aspects associated with Autosomal dominant nocturnal frontal lobe epilepsy

Mutation is occurred between CHRNA4 and CHRNB2 gene. The alpha4 subunit gene of the neuronal nicotinic acetylcholine receptor (CHRNA4) has been identified as the first gene which is associated with ADNFLE. CHRNA4 is located on chromosome 20 q13.2-13.3 and CHRNB2 on chromosome 1q21-q22.

Signs and symptoms for Autosomal dominant nocturnal frontal lobe epilepsy

• Complex seizure occurred during sleep and rarely at daytime
  
• Movements of arms and legs which basically involves clenching or arm lifting/lowering.
  
• Vocalization involves shouting, moaning or sometimes crying.
  
• Found firstly in childhood and become infrequent after age of 30.

Diagnosis for Autosomal dominant nocturnal frontal lobe epilepsy

• Video–polysomnography gives you correct diagnosis.
  
• Molecular genetic testing
  
• Inter-ictal EEG and Ictal EEG
  
• Detailed family history of patient, information about seizure from witnesses and patient
  
• CT and MRI scan intellectual and neurologic examinations which show mostly normal result.

Treatment for Autosomal dominant nocturnal frontal lobe epilepsy

Anti-epileptic drugs are used. Carbamazepine is used for the treatment of ADNFLE but in many cases it is poorly effective.