Complex cortical dysplasia with other brain malformations
Definition:
References:
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[1]. Ashleigh E Schaffer, et al. Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration. Nat Genet. 2018 Aug;50(8):1093-1101. [Content Brief]
[2]. Catherine Fallet-Bianco, et al. Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly. Acta Neuropathol Commun. 2014 Jul 25;2:69. [Content Brief]
[3]. Karine Poirier, et al. Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. Hum Mol Genet. 2010 Nov 15;19(22):4462-73. [Content Brief]
[4]. Karine Poirier, et al. Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Nat Genet. 2013 Jun;45(6):639-47. [Content Brief]
[5]. Martin Breuss, et al. Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities. Cell Rep. 2012 Dec 27;2(6):1554-62. [Content Brief]
[6]. Sangmoon Lee, et al. Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay. Am J Hum Genet. 2019 Oct 3;105(4):844-853. [Content Brief]
[7]. Thomas D Cushion, et al. De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy. Am J Hum Genet. 2014 Apr 3;94(4):634-41. [Content Brief]
[8]. Xavier Hubert Jaglin, et al. Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria. Nat Genet. 2009 Jun;41(6):746-52. [Content Brief]