[Autosomal dominant nocturnal frontal lobe epilepsy]

Rev Neurol (Paris). 1998 Apr;154(3):228-35.
[Article in French]

Abstract

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a recently identified seizure disorder. The disease maps to the long arm of chromosome 20 and may be related in some families to a missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit. We describe one of the first European family with ADNFLE, including five affected individuals spanning four generations. In the most severely affected subject, the onset was during the second month of life and persisted through adult life. Seizures were very frequent during infancy, although long-term evolution was relatively benign. Ictal video-EEG studies showed that attacks occurred in clusters during sleep and were partial seizures that were consistent with a frontal origin. Neuro-imaging was normal. Carbamazepine had a dramatic effectiveness. Although recognition of this syndrome is important for appropriate therapy and genetic counselling, underestimation of cases is likely: the disease was in our family perceived like a hereditary curse, and subsequently concealed, including to medical attention. Relationships with other partial familial epilepsies and with idiopathic benign partial epilepsies of childhood are discussed.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Adult
  • Age of Onset
  • Aged
  • Aged, 80 and over
  • Anticonvulsants / therapeutic use
  • Circadian Rhythm
  • Diethylcarbamazine / therapeutic use
  • Electroencephalography
  • Epilepsy, Frontal Lobe / drug therapy
  • Epilepsy, Frontal Lobe / genetics*
  • Epilepsy, Frontal Lobe / physiopathology*
  • Europe
  • Female
  • Genes, Dominant*
  • Humans
  • Male
  • Middle Aged
  • Pedigree
  • Seizures / genetics
  • Seizures / physiopathology
  • Sleep / physiology

Substances

  • Anticonvulsants
  • Diethylcarbamazine