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

doi:10.1111/j.1528-1167.2007.01517.x

If you are seeing this message, you may be experiencing temporary network problems. Please wait a few minutes and refresh the page. If the problem persists, you may wish to report it to your local Network Manager.

It is also possible that your web browser is not configured or not able to display style sheets. In this case, although the visual presentation will be degraded, the site should continue to be functional. We recommend using the latest version of Microsoft or Mozilla web browser to help minimise these problems.

Wiley InterScience

Epilepsia

Volume 49 Issue 6, Pages 1086 - 1090

Published Online: 31 Jan 2008

Published on behalf of the International League Against Epilepsy (ILAE)

Go to Society Site

< Previous Abstract | Next Abstract >

Save Article to My Profile Download Citation Request Permissions

Abstract | References | Full Text: HTML, PDF (Size: 174K) | Related Articles | Citation Tracking

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

*Steven L. Kugler, †Bhavna Bali, ‡Philip Lieberman, §Lisa Strug, ¶Bernadine Gagnon, †Peregrine L. Murphy, †Tara Clarke, §#David A. Greenberg, and †§#Deb K. Pal

*Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, U.S.A. ; †Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, New York, U.S.A. ; ‡Department of Cognitive and Linguistic Sciences, Brown University, Providence, Rhode Island, U.S.A. ; §Division of Statistical Genetics, Mailman School of Public Health, Columbia University, New York, New York, U.S.A. ; ¶Edward D Mysak Center for Speech and Hearing, Teacher's College, Columbia University, New York, New York, U.S.A. ; and #Department of Psychiatry, Columbia University, New York, New York, U.S.A.

Address correspondence to Dr Deb K Pal, Mailman School of Public Health, Columbia University, 722 West 168th Street, Sixth Floor, New York, NY 10032, U.S.A. E-mail: dkp28@columbia.edu

KEYWORDS

Linkage • Pedigree • Speech • Oromotor • Broca • Dyspraxia

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.

Accepted December 12, 2007; Online Early publication February 1, 2008.

DIGITAL OBJECT IDENTIFIER (DOI)

10.1111/j.1528-1167.2007.01517.x About DOI