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Article

Compound heterozygosity in GPR56 with bilateral frontoparietal polymicrogyria.

Brain & development - 1 Jun 2014

Fujii Yuji, Ishikawa Nobutsune, Kobayashi Yoshiyuki, Kobayashi Masao, Kato Mitsuhiro

Abstract excerpt

Polymicrogyria is caused by a diverse etiology, one of which is gene mutation. At present, only one gene (GPR56) is known to cause polymicrogyria, which leads to a distinctive phenotype termed bilateral frontoparietal polymicrogyria (BFPP). BFPP is an autosomal recessive inherited human brain malformation with abnormal cortical lamination. Here, we identified compound heterozygous GPR56 mutations in a patient...

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PMID: 23981349
DOI: 10.1016/j.braindev.2013.07.015

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