Human cerebral cortical polymicrogyria is a heterogeneous disorder, with only one known gene (GPR56) associated with an apparently distinctive phenotype, termed bilateral frontoparietal polymicrogyria (BFPP). To define the range of abnormalities that could be caused by human GPR56 mutations and to establish diagnostic criteria for BFPP, we analyzed the GPR56 gene in a cohort of 29 patients with typical BFPP. We identified homozygous GPR56 mutations in all 29 patients with typical BFPP.
Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes / PIAO X; CHANG BS; BODELL A; WOODS K; BENZEEV B; TOPCU M; R. GUERRINI; GOLDBERG-STERN H; SZTRIHA L; DOBYNS WB; BARKOVICH AJ; WALSH CA. - In: ANNALS OF NEUROLOGY. - ISSN 0364-5134. - STAMPA. - 58:(2005), pp. 680-687. [10.1002/ana.20616]
Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes.
GUERRINI, RENZO;
2005
Abstract
Human cerebral cortical polymicrogyria is a heterogeneous disorder, with only one known gene (GPR56) associated with an apparently distinctive phenotype, termed bilateral frontoparietal polymicrogyria (BFPP). To define the range of abnormalities that could be caused by human GPR56 mutations and to establish diagnostic criteria for BFPP, we analyzed the GPR56 gene in a cohort of 29 patients with typical BFPP. We identified homozygous GPR56 mutations in all 29 patients with typical BFPP.
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