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

作者：Kugler Steven L; Bali Bhavna; Lieberman Philip; Strug Lisa; Gagnon Bernadine; Murphy Peregrine L; Clarke Tara; Greenberg David A; Pal Deb K^*

来源：Epilepsia, 2008, 49(6): 1086-1090.

DOI：10.1111/j.1528-1167.2007.01517.x

• linkage
• pedigree
• speech
• oromotor
• broca
• dyspraxia

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.

• 出版日期2008-6
• 单位南宁师范大学