Polymicrogyria

Definition:

Polymicrogyria (PMG) is a malformation of cortical development characterized by an excessive number of small gyri with abnormal lamination.

References:

[1]. A Jansen, et al. Genetics of the polymicrogyria syndromes. J Med Genet. 2005 May;42(5):369-78. [Content Brief]

[2]. Alistair T Pagnamenta, et al. Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis. Hum Mol Genet. 2015 Jul 1;24(13):3732-41. [Content Brief]

[3]. Denise Horn, et al. Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities. Am J Med Genet A. 2017 Sep;173(9):2534-2538. [Content Brief]

[4]. Renzo Guerrini, et al. Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options. Trends Neurosci. 2008 Mar;31(3):154-62. [Content Brief]

[5]. Stéphanie Baulac, et al. Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria. Neurology. 2014 Mar 25;82(12):1068-75. [Content Brief]

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