title: An autosomal dominant genetically heterogeneous variant of rolandic epilepsy and speech disorder.
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.
authors.affiliation: Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.
authors.forename: Steven L
authors.initials: SL
authors.lastname: Kugler
authors.forename: Bhavna
authors.initials: B
authors.lastname: Bali
authors.forename: Philip
authors.initials: P
authors.lastname: Lieberman
authors.forename: Lisa
authors.initials: L
authors.lastname: Strug
authors.forename: Bernadine
authors.initials: B
authors.lastname: Gagnon
authors.forename: Peregrine L
authors.initials: PL
authors.lastname: Murphy
authors.forename: Tara
authors.initials: T
authors.lastname: Clarke
authors.forename: David A
authors.initials: DA
authors.lastname: Greenberg
authors.forename: Deb K
authors.initials: DK
authors.lastname: Pal
mesh_terms: D000328:Adult; D001072:Apraxias / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D019305:Epilepsy, Rolandic / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D005071:Evoked Potentials / Q000502:physiology; D005799:Genes, Dominant / Q000235:genetics*; D018740:Genetic Heterogeneity; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D008297:Male; D018895:Microsatellite Repeats; D009460:Neurologic Examination; D010375:Pedigree; D010641:Phenotype; D013018:Sound Spectrography; D013068:Speech Production Measurement; D013702:Temporal Lobe / Q000503:physiopathology