NPRL2 related epilepsy

Evidence-based neurology checklist on nprl2 related epilepsy: Genetics The NPRL2 gene is associated with enhanced mTORC1 signalling Phenotypes Seizure types Differential diagnosis Magnetic resonance imaging (MRI) brain Electroencephalogram (EEG) Treatment References

Genetics

  • The NPRL2 gene is associated with enhanced mTORC1 signalling

Phenotypes

Seizure types

Differential diagnosis

Magnetic resonance imaging (MRI) brain

Electroencephalogram (EEG)

Treatment

References 

References

  1. Zhang H, Deng J, Gao Z, et al. Clinical phenotype and genotype of NPRL2-related epilepsy: four cases reports and literature review. Seizure 2023 (Online ahead of print).
  2. Zhang J, Shen Y, Yang Z, et al. A splicing variation in NPRL2 causing familial focal epilepsy with variable foci: additional cases and literature review. J Hum Genet 2022; 67:79-85.

Related checklists

Loading...