An autosomal dominant genetically heterogeneous variant of rolandic epilepsy and speech disorder.
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.
Kugler
Steven L
SL
Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.
Bali
Bhavna
B
Lieberman
Philip
P
Strug
Lisa
L
Gagnon
Bernadine
B
Murphy
Peregrine L
PL
Clarke
Tara
T
Greenberg
David A
DA
Pal
Deb K
DK
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