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focal cortical dysplasia

Genetics: - upregulation of nuclear NEUROG2 & consequently RND2 Clinical manifestations: - common cause of drug-resistant epilepsy

General

dysplasia developmental disorder

References

  1. Avansini SH, Torres FR, Vieira AS et al Dysregulation of NEUROG2 plays a key role in focal cortical dysplasia. Ann Neurol. 2018 Mar;83(3):623-635. Epub 2018 Mar 10. PMID: 29461643 Free PMC Article https://onlinelibrary.wiley.com/doi/abs/10.1002/ana.25187