An autosomal dominant genetically heterogeneous variant of rolandic epilepsy and speech disorder
Authors: Kugler, Steven L.1; Bali, Bhavna2; Lieberman, Philip3; Strug, Lisa4; Gagnon, Bernadine5; Murphy, Peregrine L.2; Clarke, Tara2; Greenberg, David A.; Pal, Deb K.
Source: Epilepsia, Volume 49, Number 6, June 2008 , pp. 1086-1090(5)
Publisher: Blackwell Publishing
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Abstract:
Summary 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.Keywords: Linkage; Pedigree; Speech; Oromotor; Broca; Dyspraxia
Document Type: Research article
DOI: 10.1111/j.1528-1167.2007.01517.x
Affiliations: 1: Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, U.S.A. 2: Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, New York, U.S.A. 3: Department of Cognitive and Linguistic Sciences, Brown University, Providence, Rhode Island, U.S.A. 4: Division of Statistical Genetics, Mailman School of Public Health, Columbia University, New York, New York, U.S.A. 5: Edward D Mysak Center for Speech and Hearing, Teacher's College, Columbia University, New York, New York, U.S.A.
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