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Article

Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes.

Annals of neurology - 1 Nov 2005

Piao Xianhua, Chang Bernard S, Bodell Adria, Woods Katelyn, Benzeev Bruria, Topcu Meral, Guerrini Renzo, Goldberg-Stern Hadassa, Sztriha Laszlo, Dobyns William B, Barkovich A James, Walsh Christopher A

Abstract excerpt

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...

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PMID: 16240336
DOI: 10.1002/ana.20616

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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