Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability

Epilepsia. 2008 Dec;49(12):2125-9. doi: 10.1111/j.1528-1167.2008.01652.x. Epub 2008 May 9.

Abstract

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a relatively benign epilepsy syndrome with few comorbidities. Here we describe two families with unusually severe ADNFLE, with associated psychiatric, behavioral, and cognitive features. Detailed clinical data on 17 affected individuals were obtained, and genotyping of microsatellite markers, linkage analysis, and sequencing of candidate genes was performed. The severe ADNFLE phenotype in these families was often refractory to treatment, with status epilepticus occurring in 24% of subjects. Psychiatric or behavioral disorders occurred in 53%, with intellectual disability in 24%, and developmental regression in two individuals. No mutations were identified in alpha4, alpha2, or beta2 nAChR subunits. In one family there was evidence of linkage to a region of 15q24 without nAChR subunit genes. In conclusion, severe ADNFLE has significant medical, psychiatric, and intellectual morbidity. The molecular basis of severe ADNFLE is unknown but may involve non-nAChR-related mechanisms.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Child
  • Child, Preschool
  • Cognition Disorders / complications*
  • Cognition Disorders / genetics
  • Electroencephalography
  • Epilepsy, Frontal Lobe / complications*
  • Epilepsy, Frontal Lobe / genetics
  • Family Health
  • Female
  • Genes, Dominant*
  • Genetic Heterogeneity
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Mental Disorders / complications*
  • Middle Aged
  • Pedigree
  • Protein Subunits / genetics
  • Receptors, Nicotinic / genetics
  • Sleep Wake Disorders / complications*
  • Sleep Wake Disorders / genetics
  • Young Adult

Substances

  • Protein Subunits
  • Receptors, Nicotinic