An autosomal dominant genetically heterogeneous variant of rolandic epilepsy and speech disorder
Version of Record online: 31 JAN 2008
© 2008 International League Against Epilepsy
Volume 49, Issue 6, pages 1086–1090, June 2008
How to Cite
Kugler, S. L., Bali, B., Lieberman, P., Strug, L., Gagnon, B., Murphy, P. L., Clarke, T., Greenberg, D. A. and Pal, D. K. (2008), An autosomal dominant genetically heterogeneous variant of rolandic epilepsy and speech disorder. Epilepsia, 49: 1086–1090. doi: 10.1111/j.1528-1167.2007.01517.x
- Issue online: 31 JAN 2008
- Version of Record online: 31 JAN 2008
- Accepted December 12, 2007; Online Early publication February 1, 2008.
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.