Article
Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations.
Epilepsia - 1 Jun 2009
Parrini Elena, Ferrari Anna Rita, Dorn Thomas, Walsh Christopher A, Guerrini Renzo
Abstract excerpt
PURPOSE: Bilateral frontoparietal polymicrogyria (BFPP) has been reported in sporadic patients and in recessive pedigrees. Eleven mutations in GPR56, a gene encoding an evolutionarily dynamic G-protein-coupled receptor, have been identified in 29 patients from 18 families. The clinical features of BFPP include severe mental retardation, motor and language impairment, and epilepsy. No detailed description of the...
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