Malformations of cortical development (MCD): lissencephaly genes

Evidence-based neurology checklist on malformations of cortical development (mcd): lissencephaly genes: Tubulin genes TUBA1A TUBA8 TUBB2B TUBB TUBB3 TUBG1 ARX DCX (doublecortin) Other genes

Tubulin genes

  • TUBA1A
  • TUBA8
  • TUBB2B
  • TUBB
  • TUBB3
  • TUBG1

ARX

DCX (doublecortin)

Other genes

References

  1. Di Donato N, Chiari S, Mirzaa GM, et al. Lissencephaly: expanded imaging and clinical classification. Am J Med Genet A 2017; 173:1473-1488.
  2. Di Donato N, Timms AE, Aldinger KA, et al. Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. Genet Med 2018; doi: 10.1038/gim.2018.8 (Epub ahead of print).
  3. Oegema R, Maat-Kievit A, Lequin MH, et al. Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARX. Am J Med Genet A 2012; 158A:1472-1476.
  4. Leger PL, Souville I, Boddaert N, et al. The location of DCX mutations predicts malformation severity in X-linked lissencephaly. Neurogenetics 2008; 9:277-285.
  5. Bahi-Buisson N, Souville I, Fourniol FJ, et al; SBH-LIS European Consortium. New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum. Brain 2013; 136:223-244.
  6. And 7 more. Subscribe to see the full list

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