An autosomal dominant genetically heterogeneous variant of rolandic epilepsy and speech disorder

Epilepsia. 2008 Jun;49(6):1086-90. doi: 10.1111/j.1528-1167.2007.01517.x. Epub 2008 Jan 31.

Abstract

We report a three generation pedigree with 11 of 22 affected with a variant form of rolandic epilepsy, speech impairment, oromotor apraxia, and cognitive deficit. The core features comprised nocturnal rolandic seizures, interictal centrotemporal spike waves with early age of onset and late age of offset. The transmission of the phenotype was consistent with autosomal dominant inheritance, with variable expressivity but no evidence of anticipation. We found evidence that the seizure and speech traits may be dissociated. No abnormalities were found by cytogenetic analysis. Linkage analysis excluded loci at 11p, 15q, 16p12, and Xq22 for related phenotypes, suggesting genetic heterogeneity.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Apraxias / diagnosis
  • Apraxias / genetics*
  • Child
  • Chromosome Aberrations*
  • Chromosome Mapping
  • Epilepsy, Rolandic / diagnosis
  • Epilepsy, Rolandic / genetics*
  • Epilepsy, Rolandic / physiopathology
  • Evoked Potentials / physiology
  • Genes, Dominant / genetics*
  • Genetic Heterogeneity
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics
  • Intellectual Disability / physiopathology
  • Male
  • Microsatellite Repeats
  • Neurologic Examination
  • Pedigree
  • Phenotype
  • Sound Spectrography
  • Speech Production Measurement
  • Temporal Lobe / physiopathology

Associated data

  • OMIM/601085