An autosomal dominant genetically heterogeneous variant of rolandic epilepsy and speech disorder.
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ABSTRACT:
SUBMITTER: Kugler SL
PROVIDER: S-EPMC2435390 | biostudies-literature | 2008 Jun
REPOSITORIES: biostudies-literature
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An autosomal dominant genetically heterogeneous variant of rolandic epilepsy and speech disorder.
Kugler Steven L SL 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
Epilepsia 20080131 6
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 tr ...[more]
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